| 1. |
- Docherty, Anna R, et al.
(författare)
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GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors.
- 2023
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Ingår i: The American journal of psychiatry. - : American Psychiatric Association Publishing. - 1535-7228 .- 0002-953X. ; 180:10, s. 723-738
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Tidskriftsartikel (refereegranskat)abstract
- Suicidal behavior is heritable and is a major cause of death worldwide. Two large-scale genome-wide association studies (GWASs) recently discovered and cross-validated genome-wide significant (GWS) loci for suicide attempt (SA). The present study leveraged the genetic cohorts from both studies to conduct the largest GWAS meta-analysis of SA to date. Multi-ancestry and admixture-specific meta-analyses were conducted within groups of significant African, East Asian, and European ancestry admixtures.This study comprised 22 cohorts, including 43,871 SA cases and 915,025 ancestry-matched controls. Analytical methods across multi-ancestry and individual ancestry admixtures included inverse variance-weighted fixed-effects meta-analyses, followed by gene, gene-set, tissue-set, and drug-target enrichment, as well as summary-data-based Mendelian randomization with brain expression quantitative trait loci data, phenome-wide genetic correlation, and genetic causal proportion analyses.Multi-ancestry and European ancestry admixture GWAS meta-analyses identified 12 risk loci at p values <5×10-8. These loci were mostly intergenic and implicated DRD2, SLC6A9, FURIN, NLGN1, SOX5, PDE4B, and CACNG2. The multi-ancestry SNP-based heritability estimate of SA was 5.7% on the liability scale (SE=0.003, p=5.7×10-80). Significant brain tissue gene expression and drug set enrichment were observed. There was shared genetic variation of SA with attention deficit hyperactivity disorder, smoking, and risk tolerance after conditioning SA on both major depressive disorder and posttraumatic stress disorder. Genetic causal proportion analyses implicated shared genetic risk for specific health factors.This multi-ancestry analysis of suicide attempt identified several loci contributing to risk and establishes significant shared genetic covariation with clinical phenotypes. These findings provide insight into genetic factors associated with suicide attempt across ancestry admixture populations, in veteran and civilian populations, and in attempt versus death.
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| 2. |
- Mullins, Niamh, et al.
(författare)
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Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors
- 2022
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Ingår i: Biological Psychiatry. - : Elsevier. - 0006-3223 .- 1873-2402. ; 91:3, s. 313-327
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders.METHODS: We conducted a genome-wide association study (GWAS) of 29,782 suicide attempt (SA) cases and 519,961 controls in the International Suicide Genetics Consortium (ISGC). The GWAS of SA was conditioned on psychiatric disorders using GWAS summary statistics via multitrait-based conditional and joint analysis, to remove genetic effects on SA mediated by psychiatric disorders. We investigated the shared and divergent genetic architectures of SA, psychiatric disorders, and other known risk factors.RESULTS: Two loci reached genome-wide significance for SA: the major histocompatibility complex and an intergenic locus on chromosome 7, the latter of which remained associated with SA after conditioning on psychiatric disorders and replicated in an independent cohort from the Million Veteran Program. This locus has been implicated in risk-taking behavior, smoking, and insomnia. SA showed strong genetic correlation with psychiatric disorders, particularly major depression, and also with smoking, pain, risk-taking behavior, sleep disturbances, lower educational attainment, reproductive traits, lower socioeconomic status, and poorer general health. After conditioning on psychiatric disorders, the genetic correlations between SA and psychiatric disorders decreased, whereas those with nonpsychiatric traits remained largely unchanged.CONCLUSIONS: Our results identify a risk locus that contributes more strongly to SA than other phenotypes and suggest a shared underlying biology between SA and known risk factors that is not mediated by psychiatric disorders.
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| 3. |
- Assimes, Themistocles L., et al.
(författare)
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Lack of Association Between the Trp719Arg Polymorphism in Kinesin-Like Protein-6 and Coronary Artery Disease in 19 Case-Control Studies
- 2010
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Ingår i: Journal of the American College of Cardiology. - : Elsevier BV. - 0735-1097. ; 56:19, s. 1552-1563
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Tidskriftsartikel (refereegranskat)abstract
- Objectives We sought to replicate the association between the kinesin-like protein 6 (KIF6) Trp719Arg polymorphism (rs20455), and clinical coronary artery disease (CAD). Background Recent prospective studies suggest that carriers of the 719Arg allele in KIF6 are at increased risk of clinical CAD compared with noncarriers. Methods The KIF6 Trp719Arg polymorphism (rs20455) was genotyped in 19 case-control studies of nonfatal CAD either as part of a genome-wide association study or in a formal attempt to replicate the initial positive reports. Results A total of 17,000 cases and 39,369 controls of European descent as well as a modest number of South Asians, African Americans, Hispanics, East Asians, and admixed cases and controls were successfully genotyped. None of the 19 studies demonstrated an increased risk of CAD in carriers of the 719Arg allele compared with noncarriers. Regression analyses and fixed-effects meta-analyses ruled out with high degree of confidence an increase of >= 2% in the risk of CAD among European 719Arg carriers. We also observed no increase in the risk of CAD among 719Arg carriers in the subset of Europeans with early-onset disease (younger than 50 years of age for men and younger than 60 years of age for women) compared with similarly aged controls as well as all non-European subgroups. Conclusions The KIF6 Trp719Arg polymorphism was not associated with the risk of clinical CAD in this large replication study. (J Am Coll Cardiol 2010;56:1552-63) (C) 2010 by the American College of Cardiology Foundation
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| 4. |
- Loza, M. J., et al.
(författare)
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Validated and longitudinally stable asthma phenotypes based on cluster analysis of the ADEPT study
- 2016
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Ingår i: Respiratory Research. - : Springer Nature. - 1465-9921 .- 1465-993X. ; 17:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: Asthma is a disease of varying severity and differing disease mechanisms. To date, studies aimed at stratifying asthma into clinically useful phenotypes have produced a number of phenotypes that have yet to be assessed for stability and to be validated in independent cohorts. The aim of this study was to define and validate, for the first time ever, clinically driven asthma phenotypes using two independent, severe asthma cohorts: ADEPT and U-BIOPRED. Methods: Fuzzy partition-around-medoid clustering was performed on pre-specified data from the ADEPT participants (n = 156) and independently on data from a subset of U-BIOPRED asthma participants (n = 82) for whom the same variables were available. Models for cluster classification probabilities were derived and applied to the 12-month longitudinal ADEPT data and to a larger subset of the U-BIOPRED asthma dataset (n = 397). High and low type-2 inflammation phenotypes were defined as high or low Th2 activity, indicated by endobronchial biopsies gene expression changes downstream of IL-4 or IL-13. Results: Four phenotypes were identified in the ADEPT (training) cohort, with distinct clinical and biomarker profiles. Phenotype 1 was "mild, good lung function, early onset", with a low-inflammatory, predominantly Type-2, phenotype. Phenotype 2 had a "moderate, hyper-responsive, eosinophilic" phenotype, with moderate asthma control, mild airflow obstruction and predominant Type-2 inflammation. Phenotype 3 had a "mixed severity, predominantly fixed obstructive, non-eosinophilic and neutrophilic" phenotype, with moderate asthma control and low Type-2 inflammation. Phenotype 4 had a "severe uncontrolled, severe reversible obstruction, mixed granulocytic" phenotype, with moderate Type-2 inflammation. These phenotypes had good longitudinal stability in the ADEPT cohort. They were reproduced and demonstrated high classification probability in two subsets of the U-BIOPRED asthma cohort. Conclusions: Focusing on the biology of the four clinical independently-validated easy-to-assess ADEPT asthma phenotypes will help understanding the unmet need and will aid in developing tailored therapies. Trial registration:NCT01274507(ADEPT), registered October 28, 2010 and NCT01982162(U-BIOPRED), registered October 30, 2013.
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| 5. |
- Schunkert, Heribert, et al.
(författare)
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Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
- 2011
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 43:4, s. 153-333
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Tidskriftsartikel (refereegranskat)abstract
- We performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals. This analysis identified 13 loci newly associated with CAD at P < 5 x 10(-8) and confirmed the association of 10 of 12 previously reported CAD loci. The 13 new loci showed risk allele frequencies ranging from 0.13 to 0.91 and were associated with a 6% to 17% increase in the risk of CAD per allele. Notably, only three of the new loci showed significant association with traditional CAD risk factors and the majority lie in gene regions not previously implicated in the pathogenesis of CAD. Finally, five of the new CAD risk loci appear to have pleiotropic effects, showing strong association with various other human diseases or traits.
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| 6. |
- Attermeyer, Katrin, et al.
(författare)
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Carbon dioxide fluxes increase from day to night across European streams
- 2021
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Ingår i: Communications Earth & Environment. - : Springer Nature. - 2662-4435. ; 2:1
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Tidskriftsartikel (refereegranskat)abstract
- Globally, inland waters emit over 2 Pg of carbon per year as carbon dioxide, of which the majority originates from streams and rivers. Despite the global significance of fluvial carbon dioxide emissions, little is known about their diel dynamics. Here we present a large-scale assessment of day- and night-time carbon dioxide fluxes at the water-air interface across 34 European streams. We directly measured fluxes four times between October 2016 and July 2017 using drifting chambers. Median fluxes are 1.4 and 2.1mmolm(-2) h(-1) at midday and midnight, respectively, with night fluxes exceeding those during the day by 39%. We attribute diel carbon dioxide flux variability mainly to changes in the water partial pressure of carbon dioxide. However, no consistent drivers could be identified across sites. Our findings highlight widespread day-night changes in fluvial carbon dioxide fluxes and suggest that the time of day greatly influences measured carbon dioxide fluxes across European streams. Diel patterns can greatly impact total stream carbon dioxide emissions, with 39% greater carbon dioxide flux during the night-time relative to the day-time, according to a study of 34 streams across Europe.
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| 7. |
- Berggren, Martin, et al.
(författare)
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Quality transformation of dissolved organic carbon during water transit through lakes : contrasting controls by photochemical and biological processes
- 2018
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Ingår i: Biogeosciences. - : European Geosciences Union (EGU). - 1726-4170 .- 1726-4189. ; 15:2, s. 457-470
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Tidskriftsartikel (refereegranskat)abstract
- Dissolved organic carbon (DOC) may be removed, transformed, or added during water transit through lakes, resulting in changes in DOC composition and pigmentation (color). However, the process-based understanding of these changes is incomplete, especially for headwater lakes. We hypothesized that because heterotrophic bacteria preferentially consume noncolored DOC, while photochemical processing removes colored fractions, the overall changes in DOC color upon water passage through a lake depend on the relative importance of these two processes, accordingly. To test this hypothesis we combined laboratory experiments with field studies in nine boreal lakes, assessing both the relative importance of different DOC decay processes (biological or photochemical) and the loss of color during water transit time (WTT) through the lakes. We found that influence from photo-decay dominated changes in DOC quality in the epilimnia of relatively clear headwater lakes, resulting in systematic and selective net losses of colored DOC. However, in highly pigmented brown-water lakes (absorbance at 420 nm > 7 m(-1)) biological processes dominated, and there was no systematic relationship between color loss and WTT. Moreover, in situ data and dark experiments supported our hypothesis on the selective microbial removal of nonpigmented DOC, mainly of low molecular weight, leading to persistent water color in these highly colored lakes. Our study shows that brown headwater lakes may not conform to the commonly reported pattern of the selective removal of colored constituents in freshwaters, as DOC can show a sustained degree of pigmentation upon transit through these lakes.
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| 8. |
- Berndt, Sonja I., et al.
(författare)
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Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:5, s. 501-U69
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Tidskriftsartikel (refereegranskat)abstract
- Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.
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| 9. |
- Bothou, Christina, et al.
(författare)
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Current Management and Outcome of Pregnancies in Women With Adrenal Insufficiency : Experience from a Multicenter Survey
- 2020
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Ingår i: Journal of Clinical Endocrinology and Metabolism. - : Oxford University Press. - 0021-972X .- 1945-7197. ; 105:8
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Tidskriftsartikel (refereegranskat)abstract
- Context: Appropriate management of adrenal insufficiency (AI) in pregnancy can be challenging due to the rarity of the disease and lack of evidence-based recommendations to guide glucocorticoid and mineralocorticoid dosage adjustment.Objective: Multicenter survey on current clinical approaches in managing AI during pregnancy.Design: Retrospective anonymized data collection from 19 international centers from 2013 to 2019.Setting and patients: 128 pregnancies in 113 women with different causes of AI: Addison disease (44%), secondary AI (25%), congenital adrenal hyperplasia (25%), and acquired AI due to bilateral adrenalectomy (6%).Results: Hydrocortisone (HC) was the most commonly used glucocorticoid in 83% (97/117) of pregnancies. Glucocorticoid dosage was increased at any time during pregnancy in 73/128 (57%) of cases. In these cases, the difference in the daily dose of HC equivalent between baseline and the third trimester was 8.6 ± 5.4 (range 1-30) mg. Fludrocortisone dosage was increased in fewer cases (7/54 during the first trimester, 9/64 during the second trimester, and 9/62 cases during the third trimester). Overall, an adrenal crisis was reported in 9/128 (7%) pregnancies. Cesarean section was the most frequent mode of delivery at 58% (69/118). Fetal complications were reported in 3/120 (3%) and minor maternal complications in 15/120 (13%) pregnancies without fatal outcomes.Conclusions: This survey confirms good maternal and fetal outcome in women with AI managed in specialized endocrine centers. An emphasis on careful endocrine follow-up and repeated patient education is likely to have reduced the risk of adrenal crisis and resulted in positive outcomes.
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| 10. |
- Broman, Marcus, et al.
(författare)
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Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis.
- 2011
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Ingår i: Anesthesia and Analgesia. - 1526-7598. ; 113:5, s. 1120-1128
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Tidskriftsartikel (refereegranskat)abstract
- A diagnosis of malignant hyperthermia (MH) can be determined by performing an in vitro (muscle) contracture test (IVCT) or by identifying a known MH causative mutation in the ryanodine receptor 1 gene (RYR1). Genetic diagnosis has an advantage over IVCT because it is less invasive. Direct sequencing of the very large RYR1 coding region (15.117 bases) is a laborious and expensive task. In this study, we applied the High Resolution Melting (HRM) curve analysis as a tool to screen the entire coding region of the gene.
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| 11. |
- Corman, Jessica R., et al.
(författare)
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Response of lake metabolism to catchment inputs inferred using high-frequency lake and stream data from across the northern hemisphere
- 2023
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Ingår i: Limnology and Oceanography. - : John Wiley & Sons. - 0024-3590 .- 1939-5590. ; 68:12, s. 2617-2631
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Tidskriftsartikel (refereegranskat)abstract
- In lakes, the rates of gross primary production (GPP), ecosystem respiration (R), and net ecosystem production (NEP) are often controlled by resource availability. Herein, we explore how catchment vs. within lake predictors of metabolism compare using data from 16 lakes spanning 39°N to 64°N, a range of inflowing streams, and trophic status. For each lake, we combined stream loads of dissolved organic carbon (DOC), total nitrogen (TN), and total phosphorus (TP) with lake DOC, TN, and TP concentrations and high frequency in situ monitoring of dissolved oxygen. We found that stream load stoichiometry indicated lake stoichiometry for C : N and C : P (r2 = 0.74 and r2 = 0.84, respectively), but not for N : P (r2 = 0.04). As we found a strong positive correlation between TN and TP, we only used TP in our statistical models. For the catchment model, GPP and R were best predicted by DOC load, TP load, and load N : P (R2 = 0.85 and R2 = 0.82, respectively). For the lake model, GPP and R were best predicted by TP concentrations (R2 = 0.86 and R2 = 0.67, respectively). The inclusion of N : P in the catchment model, but not the lake model, suggests that both N and P regulate metabolism and that organisms may be responding more strongly to catchment inputs than lake resources. Our models predicted NEP poorly, though it is unclear why. Overall, our work stresses the importance of characterizing lake catchment loads to predict metabolic rates, a result that may be particularly important in catchments experiencing changing hydrologic regimes related to global environmental change.
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| 12. |
- Deininger, Anne, et al.
(författare)
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Pelagic food web response to whole lake N fertilization
- 2017
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Ingår i: Limnology and Oceanography. - : Wiley. - 0024-3590 .- 1939-5590. ; 62:4, s. 1498-1511
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Tidskriftsartikel (refereegranskat)abstract
- Anthropogenic activities are increasing inorganic nitrogen (N) loadings to unproductive boreal lakes. In many of these lakes phytoplankton are N limited, consequently N fertilization may affect ecosystem productivity and consumer resource use. Here, we conducted whole lake inorganic N fertilization experiments with six small N limited unproductive boreal lakes (three control and three N enriched) in an area receiving low N deposition with one reference and two impact years. Our aim was to assess the effects of N fertilization on pelagic biomass production and consumer resource use. We found that phytoplankton primary production (PP) and biomass, and the PP: bacterioplankton production ratio increased after fertilization. As expected, the relative contribution of phytoplankton derived resources (autochthony) that supported the crustacean zooplankton community increased. Yet, the response in the consumer community was modest with autochthony only increasing in one of the three major zooplankton groups and with no effect on zooplankton biomass. In conclusion, our findings imply that newly available phytoplankton energy derived from N fertilization was not efficiently transferred up to zooplankton, indicating a mismatch between producer energy supply and consumer energy use with potential accumulation of phytoplankton biomass as the result.
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| 13. |
- Denfeld, Blaize A., et al.
(författare)
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Carbon Dioxide and Methane Dynamics in a Small Boreal Lake During Winter and Spring Melt Events
- 2018
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Ingår i: Journal of Geophysical Research - Biogeosciences. - 2169-8953 .- 2169-8961. ; 123:8, s. 2527-2540
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Tidskriftsartikel (refereegranskat)abstract
- In seasonally ice‐covered lakes, carbon dioxide (CO2) and methane (CH4) emission at ice‐off can account for a significant fraction of the annual budget. Yet knowledge of the mechanisms controlling below lake‐ice carbon (C) dynamics and subsequent CO2 and CH4 emissions at ice‐off is limited. To understand the control of below ice C dynamics, and C emissions in spring, we measured spatial variation in CO2, CH4, and dissolved inorganic and organic carbon from ice‐on to ice‐off, in a small boreal lake during a winter with sporadic melting events. Winter melt events were associated with decreased surface water DOC in the forest‐dominated basin and increased surface water CH4 in the mire‐dominated basin. At the whole‐lake scale, CH4 accumulated below ice throughout the winter, whereas CO2 accumulation was greatest in early winter. Mass‐balance estimates suggest that, in addition to the CO2 and CH4 accumulated during winter, external inputs of CO2 and CH4 and internal processing during ice‐melt could represent significant sources of C gas emissions during ice‐off. Moreover, internal processing of CO2 and CH4 worked in opposition, with production of CO2 and oxidation of CH4 dominating at ice‐off. These findings have important implications for how small boreal lakes will respond to warmer winters in the future; increased winter melt events will likely increase external inputs below ice and thus alter the extent and timing of CO2 and CH4 emissions to the atmosphere at ice‐off.
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| 14. |
- Dima, Danai, et al.
(författare)
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Subcortical volumes across the lifespan : Data from 18,605 healthy individuals aged 3-90 years.
- 2022
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Ingår i: Human Brain Mapping. - : Wiley. - 1065-9471 .- 1097-0193. ; 43:1, s. 452-469
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Tidskriftsartikel (refereegranskat)abstract
- Age has a major effect on brain volume. However, the normative studies available are constrained by small sample sizes, restricted age coverage and significant methodological variability. These limitations introduce inconsistencies and may obscure or distort the lifespan trajectories of brain morphometry. In response, we capitalized on the resources of the Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) Consortium to examine age-related trajectories inferred from cross-sectional measures of the ventricles, the basal ganglia (caudate, putamen, pallidum, and nucleus accumbens), the thalamus, hippocampus and amygdala using magnetic resonance imaging data obtained from 18,605 individuals aged 3-90 years. All subcortical structure volumes were at their maximum value early in life. The volume of the basal ganglia showed a monotonic negative association with age thereafter; there was no significant association between age and the volumes of the thalamus, amygdala and the hippocampus (with some degree of decline in thalamus) until the sixth decade of life after which they also showed a steep negative association with age. The lateral ventricles showed continuous enlargement throughout the lifespan. Age was positively associated with inter-individual variability in the hippocampus and amygdala and the lateral ventricles. These results were robust to potential confounders and could be used to examine the functional significance of deviations from typical age-related morphometric patterns.
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| 15. |
- Drozdz, Sebastian, 1992-, et al.
(författare)
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An Assessment of Customer Shared Value in the Restaurant Industry – a Survey from Sweden
- 2015
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Ingår i: Theoretical and Applied Economics. - Bucarest : Asociatia Generala a Economistilor din Romania (A G E R). - 1841-8678 .- 1844-0029. ; 22:4 (605), s. 85-98
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Tidskriftsartikel (refereegranskat)abstract
- The article tries to investigate to which extent the concept of Customer Shared Value (CSV) is relevant for a particular industry, the restaurant industry. We wanted to know if there is a correlation between social benefits and economic benefits for restaurants. We also wanted to know if restaurants already conduct their business according to the concept of Creating Shared Value, but maybe without reference to the concept as such. We found that restaurant companies in Sweden actually work to create economic benefits and social values. However we did not find that there was any clear pattern between economic value and social values. The companies with the highest total shared value are in fact the companies with the highest revenue, but there are also companies with lower revenue which have scored high in total shared value and vice versa. Most of the restaurants implicitly work with several factors of the concept such as having knowledge of the costs and causes of environmental impacts and the notion of how to treat employees fairly. The findings are valuable because they show to what extent CSV is a reality in the restaurant business today. This may have implications about how practitioner and scholars alike view the concept of CSV.
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| 16. |
- Erdmann, Jeanette, et al.
(författare)
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New susceptibility locus for coronary artery disease on chromosome 3q22.3
- 2009
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:3, s. 280-282
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Tidskriftsartikel (refereegranskat)abstract
- We present a three-stage analysis of genome-wide SNP data in 1,222 German individuals with myocardial infarction and 1,298 controls, in silico replication in three additional genome-wide datasets of coronary artery disease (CAD) and subsequent replication in similar to 25,000 subjects. We identified one new CAD risk locus on 3q22.3 in MRAS (P = 7.44 x 10(-13); OR = 1.15, 95% CI = 1.11-1.19), and suggestive association with a locus on 12q24.31 near HNF1A-C12orf43 (P = 4.81 x 10(-7); OR = 1.08, 95% CI = 1.05-1.11).
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| 17. |
- Fager Ferrari, Marcus, et al.
(författare)
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Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding
- 2018
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Ingår i: Platelets. - : Informa UK Limited. - 0953-7104 .- 1369-1635. ; 29:1, s. 56-64
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Tidskriftsartikel (refereegranskat)abstract
- Familial hemophagocytic lymphohistiocytosis (FHL) is caused by biallelic variants in genes regulating granule secretion in cytotoxic lymphocytes. In FHL3–5, the affected genes UNC13D, STX11 and STXBP2 have further been shown to regulate the secretion of platelet granules, giving rise to compromised platelet function. Therefore, we aimed to investigate platelet degranulation in patients heterozygous for variants in UNC13D, STX11 and STXBP2. During the work-up of patients referred to the Coagulation Unit, Skåne University Hospital, Malmö, Sweden and the Department of Hematology, Rigshospitalet, Copenhagen, Denmark due to bleeding tendencies, 12 patients harboring heterozygous variants in UNC13D, STX11 or STXBP2 were identified using targeted whole exome sequencing. Transmission electron microscopy (TEM) was used to assess the secretion of platelet dense granules following thrombin stimulation. Platelet degranulation, activation and aggregation were further assessed by flow cytometry (FC) and light transmission aggregometry (LTA) with lumi-aggregometry. In total, eight out of twelve (67%) patients showed impaired degranulation by at least one of the assays (TEM, FC and LTA). In the 12 patients, eight different heterozygous variants were identified. One variant was strongly associated with impaired degranulation, while four of the variants were associated with impaired granule secretion to a slightly lesser extent. One additional variant was found in six out of the twelve patients, and was associated with varying degrees of degranulation impairment. Accordingly, six out of the eight (75%) identified variants were associated with impaired platelet degranulation. Our results suggest that heterozygous variants in UNC13D, STX11 and STXBP2 are sufficient to cause platelet secretion defects resulting in increased bleeding.
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| 18. |
- Frangou, Sophia, et al.
(författare)
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Cortical thickness across the lifespan : Data from 17,075 healthy individuals aged 3-90 years
- 2022
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Ingår i: Human Brain Mapping. - : John Wiley & Sons. - 1065-9471 .- 1097-0193. ; 43:1, s. 431-451
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Tidskriftsartikel (refereegranskat)abstract
- Delineating the association of age and cortical thickness in healthy individuals is critical given the association of cortical thickness with cognition and behavior. Previous research has shown that robust estimates of the association between age and brain morphometry require large-scale studies. In response, we used cross-sectional data from 17,075 individuals aged 3-90 years from the Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) Consortium to infer age-related changes in cortical thickness. We used fractional polynomial (FP) regression to quantify the association between age and cortical thickness, and we computed normalized growth centiles using the parametric Lambda, Mu, and Sigma method. Interindividual variability was estimated using meta-analysis and one-way analysis of variance. For most regions, their highest cortical thickness value was observed in childhood. Age and cortical thickness showed a negative association; the slope was steeper up to the third decade of life and more gradual thereafter; notable exceptions to this general pattern were entorhinal, temporopolar, and anterior cingulate cortices. Interindividual variability was largest in temporal and frontal regions across the lifespan. Age and its FP combinations explained up to 59% variance in cortical thickness. These results may form the basis of further investigation on normative deviation in cortical thickness and its significance for behavioral and cognitive outcomes.
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| 19. |
- Gudbjartsson, Daniel F., et al.
(författare)
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Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction
- 2009
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 41:3, s. 342-347
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Tidskriftsartikel (refereegranskat)abstract
- Eosinophils are pleiotropic multifunctional leukocytes involved in initiation and propagation of inflammatory responses and thus have important roles in the pathogenesis of inflammatory diseases. Here we describe a genome-wide association scan for sequence variants affecting eosinophil counts in blood of 9,392 Icelanders. The most significant SNPs were studied further in 12,118 Europeans and 5,212 East Asians. SNPs at 2q12 (rs1420101), 2q13 (rs12619285), 3q21 (rs4857855), 5q31 (rs4143832) and 12q24 (rs3184504) reached genome-wide significance (P = 5.3 x 10(-14), 5.4 x 10(-10), 8.6 x 10(-17), 1.2 x 10(-10) and 6.5 x 10(-19), respectively). A SNP at IL1RL1 associated with asthma (P = 5.5 x 10(-12)) in a collection of ten different populations (7,996 cases and 44,890 controls). SNPs at WDR36, IL33 and MYB that showed suggestive association with eosinophil counts were also associated with atopic asthma (P = 4.2 x 10(-6), 2.2 x 10(-5) and 2.4 x 10(-4), respectively). We also found that a nonsynonymous SNP at 12q24, in SH2B3, associated significantly (P = 8.6 x 10(-8)) with myocardial infarction in six different populations (6,650 cases and 40,621 controls).
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| 20. |
- Hanschke, Lukas, et al.
(författare)
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Coherent scattering: either sub-natural linewidth or anti-bunched light
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- Epitaxial quantum dots have emerged as one of the best single–photon sources, not only for applications in photonic quantum technologies but also for testing fundamental properties of quantum optics. One intriguing observation in this area is the emission of photons with subnatural–linewidth from a two-level system under resonant continuous wave excitation. In particular, an open question is whether these subnatural–linewidth photons exhibit simultaneously single–photon characteristics, i.e. show antibunching as a signature of single-photon emission. Here, we demonstrate that this simultaneous observation of subnatural–linewidth and single photoncharacter is not possible with simple resonant excitation. First, we independently confirm single–photon character and subnatural–linewidth by demonstrating antibunching in a Hanbury Brown and Twiss type setup and using high-resolution spectroscopy, respectively. However, when filtering the coherently scattered photons with filter bandwidths on the order of the homogeneous linewidth of the excited state of the two-level system, the antibunching dip vanishes in the correlation measurement. Our experimental work is consistent with recent theoretical findings, and can be explained by a fundamental model considering higher-order photon correlations.
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| 21. |
- Hanschke, Lukas, et al.
(författare)
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Origin of Antibunching in Resonance Fluorescence
- 2020
-
Ingår i: Physical Review Letters. - : American Physical Society. - 0031-9007 .- 1079-7114. ; 125:17
-
Tidskriftsartikel (refereegranskat)abstract
- Resonance fluorescence has played a major role in quantum optics with predictions and later experimental confirmation of nonclassical features of its emitted light such as antibunching or squeezing. In the Rayleigh regime where most of the light originates from the scattering of photons with subnatural linewidth, antibunching would appear to coexist with sharp spectral lines. Here, we demonstrate that this simultaneous observation of subnatural linewidth and antibunching is not possible with simple resonant excitation. Using an epitaxial quantum dot for the two-level system, we independently confirm the single-photon character and subnatural linewidth by demonstrating antibunching in a Hanbury Brown and Twiss type setup and using high-resolution spectroscopy, respectively. However, when filtering the coherently scattered photons with filter bandwidths on the order of the homogeneous linewidth of the excited state of the two-level system, the antibunching dip vanishes in the correlation measurement. Our observation is explained by antibunching originating from photon-interferences between the coherent scattering and a weak incoherent signal in a skewed squeezed state. This prefigures schemes to achieve simultaneous subnatural linewidth and antibunched emission.
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| 22. |
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| 23. |
- Heid, Iris M, et al.
(författare)
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Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 949-960
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Tidskriftsartikel (refereegranskat)abstract
- Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an additional 29 studies (comprising up to 113,636 subjects). We identified 13 new loci in or near RSPO3, VEGFA, TBX15-WARS2, NFE2L3, GRB14, DNM3-PIGC, ITPR2-SSPN, LY86, HOXC13, ADAMTS9, ZNRF3-KREMEN1, NISCH-STAB1 and CPEB4 (P = 1.9 × 10⁻⁹ to P = 1.8 × 10⁻⁴⁰) and the known signal at LYPLAL1. Seven of these loci exhibited marked sexual dimorphism, all with a stronger effect on WHR in women than men (P for sex difference = 1.9 × 10⁻³ to P = 1.2 × 10⁻¹³). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions.
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| 24. |
- Hendriks, Kasper P., et al.
(författare)
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Global Brassicaceae phylogeny based on filtering of 1,000-gene dataset
- 2023
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Ingår i: Current Biology. - : Elsevier. - 0960-9822 .- 1879-0445. ; 33:19, s. 4052-4068
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Tidskriftsartikel (refereegranskat)abstract
- The mustard family (Brassicaceae) is a scientifically and economically important family, containing the model plant Arabidopsis thaliana and numerous crop species that feed billions worldwide. Despite its relevance, most phylogenetic trees of the family are incompletely sampled and often contain poorly supported branches. Here, we present the most complete Brassicaceae genus-level family phylogenies to date (Bras-sicaceae Tree of Life or BrassiToL) based on nuclear (1,081 genes, 319 of the 349 genera; 57 of the 58 tribes) and plastome (60 genes, 265 genera; all tribes) data. We found cytonuclear discordance between the two, which is likely a result of rampant hybridization among closely and more distantly related lineages. To eval-uate the impact of such hybridization on the nuclear phylogeny reconstruction, we performed five different gene sampling routines, which increasingly removed putatively paralog genes. Our cleaned subset of 297 genes revealed high support for the tribes, whereas support for the main lineages (supertribes) was moder-ate. Calibration based on the 20 most clock-like nuclear genes suggests a late Eocene to late Oligocene origin of the family. Finally, our results strongly support a recently published new family classification, dividing the family into two subfamilies (one with five supertribes), together representing 58 tribes. This includes five recently described or re-established tribes, including Arabidopsideae, a monogeneric tribe accommodating Arabidopsis without any close relatives. With a worldwide community of thousands of researchers working on Brassicaceae and its diverse members, our new genus-level family phylogeny will be an indispensable tool for studies on biodiversity and plant biology.
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| 25. |
- Jöns, Klaus D., et al.
(författare)
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Two-photon interference from two blinking quantum emitters
- 2017
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Ingår i: Physical Review B. - : AMER PHYSICAL SOC. - 2469-9950 .- 2469-9969. ; 96:7
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Tidskriftsartikel (refereegranskat)abstract
- We investigate the effect of blinking on the two-photon interference measurement from two independent quantum emitters. We find that blinking significantly alters the statistics in the Hong-Ou-Mandel second-order intensity correlation function g((2))(tau) and the outcome of two-photon interference measurements performed with independent quantum emitters. We theoretically demonstrate that the presence of blinking can be experimentally recognized by a deviation from the g(D)((2))(0) = 0.5 value when distinguishable photons from two emitters impinge on a beam splitter. Our findings explain the significant differences between linear losses and blinking for correlation measurements between independent sources and are experimentally verified using a parametric down-conversion photon-pair source. We show that blinking imposes a mandatory cross-check measurement to correctly estimate the degree of indistinguishability of photons emitted by independent quantum emitters.
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| 26. |
- Kanoni, Stavroula, et al.
(författare)
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Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
- 2022
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Ingår i: Genome biology. - : Springer Science and Business Media LLC. - 1474-760X .- 1465-6906 .- 1474-7596. ; 23:1
-
Tidskriftsartikel (refereegranskat)abstract
- Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery.To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N=1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3-5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism.Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk.
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| 27. |
- Karlsson, Jan, 1974-, et al.
(författare)
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Ice-melt period dominates annual carbon dioxide evasion from clear-water Arctic lakes
- 2024
-
Ingår i: Limnology and Oceanography Letters. - : John Wiley & Sons. - 2378-2242. ; 9:2, s. 112-118
-
Tidskriftsartikel (refereegranskat)abstract
- Current estimates of carbon dioxide (CO2) evasion from Arctic lakes are highly uncertain because few studies integrate seasonal variability, specifically evasion during spring ice-melt. We quantified annual CO2 evasion for 14 clear-water Arctic lakes in Northern Sweden through mass balance (ice-melt period) and high-frequency loggers (open-water period). On average, 80% (SD: ± 18) of annual CO2 evasion occurred within 10 d following ice-melt. The contribution of the ice-melt period to annual CO2 evasion was high compared to earlier studies of Arctic lakes (47% ± 32%). Across all lakes, the proportion of ice-melt : annual CO2 evasion was negatively related to the dissolved organic carbon concentration and positively related to the mean depth of the lakes. The results emphasize the need for measurements of CO2 exchange at ice-melt to accurately quantify CO2 evasion from Arctic lakes.
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| 28. |
- Klaus, Marcus, et al.
(författare)
-
A spatially explicit database of wind disturbances in European forests over the period 2000-2018
- 2020
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Ingår i: Earth System Science Data. - : Copernicus GmbH. - 1866-3508 .- 1866-3516. ; 12, s. 257-276
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Tidskriftsartikel (refereegranskat)abstract
- Strong winds may uproot and break trees and represent a major natural disturbance for European forests. Wind disturbances have intensified over the last decades globally and are expected to further rise in view of the effects of climate change. Despite the importance of such natural disturbances, there are currently no spatially explicit databases of wind-related impact at a pan-European scale. Here, we present a new database of wind disturbances in European forests (FORWIND). FORWIND is comprised of more than 80 000 spatially delineated areas in Europe that were disturbed by wind in the period 2000-2018 and describes them in a harmonized and consistent geographical vector format. The database includes all major windstorms that occurred over the observational period (e.g. Gudrun, Kyrill, Klaus, Xynthia and Vaia) and represents approximately 30% of the reported damaging wind events in Europe. Correlation analyses between the areas in FORWIND and land cover changes retrieved from the Landsat-based Global Forest Change dataset and the MODIS Global Disturbance Index corroborate the robustness of FORWIND. Spearman rank coefficients range between 0.27 and 0.48 (p value < 0.05). When recorded forest areas are rescaled based on their damage degree, correlation increases to 0.54. Wind-damaged growing stock volumes reported in national inventories (FORESTORM dataset) are generally higher than analogous metrics provided by FORWIND in combination with satellite-based biomass and country-scale statistics of growing stock volume. The potential of FORWIND is explored for a range of challenging topics and scientific fields, including scaling relations of wind damage, forest vulnerability modelling, remote sensing monitoring of forest disturbance, representation of uprooting and breakage of trees in large-scale land surface models, and hydrogeological risks following wind damage. Overall, FORWIND represents an essential and open-access spatial source that can be used to improve the understanding, detection and prediction of wind disturbances and the consequent impacts on forest ecosystems and the land-atmosphere system. Data sharing is encouraged in order to continuously update and improve FORWIND.
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| 29. |
- Klaus, Marcus, et al.
(författare)
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Challenges of predicting gas transfer velocity from wind measurements over global lakes
- 2020
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Ingår i: Aquatic Sciences. - : Springer. - 1015-1621 .- 1420-9055. ; 82:3
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Tidskriftsartikel (refereegranskat)abstract
- Estimating air-water gas transfer velocities (k) is integral to understand biogeochemical and ecological processes in aquatic systems. In lakes, k is commonly predicted using wind-based empirical models, however, their predictive performance under conditions that differ from their original calibration remains largely unassessed. Here, we collected 2222 published k estimates derived from various methods in 46 globally distributed lakes to (1) evaluate the predictions of a selection of six available wind-speed based k models for lakes and (2) explore and develop new empirical models to predict k over global lakes. We found that selected k models generally performed poorly in predicting k in lakes. Model predictions were more accurate than simply assuming a mean k in only 2-39% of all lakes, however, we could not identify with confidence the specific conditions in which some models outperformed others. We developed new wind-based models in which additional variables describing the spatial coverage of k estimates and the lake size and shape had a significant effect on the wind speed-k relationship. Although these new models did not fit the global dataset significantly better than previous k models, they generate overall less biased predictions for global lakes. We further provide explicit estimates of prediction errors that integrate methodological and lake-specific uncertainties. Our results highlight the potential limits when using wind-based models to predict k across lakes and urge scientists to properly account for prediction errors, or measure k directly in the field whenever possible.
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| 30. |
- Klaus, Marcus, et al.
(författare)
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Cryogenic Soil Activity along Bioclimatic Gradients in Northern Sweden : Insights from Eight Different Proxies
- 2013
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Ingår i: Permafrost and Periglacial Processes. - : John Wiley & Sons. - 1045-6740 .- 1099-1530. ; 24:3, s. 210-223
-
Tidskriftsartikel (refereegranskat)abstract
- Cryogenic soil activity caused by differential soil movements during freeze-thaw cycles is of fundamental importance for Arctic ecosystem functioning, but its response to climate warming is uncertain. Eight proxies of cryogenic soil activity (including measurements of soil surface motion, vegetation and grey values of aerial photographs) were examined at eight study sites where non-sorted patterned ground spans an elevation gradient (400-1150 m asl) and a precipitation gradient (300-1000 mm yr(-1)) near Abisko, northern Sweden. Six proxies were significantly correlated with each other (mean |r|=0.5). Soil surface motion increased by three to five times along the precipitation gradient and was two to four times greater at intermediate elevations than at low and high elevations, a pattern reflected by vegetation assemblages. The results suggest that inferences about how cryogenic soil activity changes with climate are independent of the choice of the proxy, although some proxies should be applied carefully. Four preferred proxies indicate that cryogenic soil activity may respond differently to climate warming along the elevation gradient and could be greatly modified by precipitation. This underlines the strong but spatially complex response of cryogenic processes to climate change in the Arctic. Copyright (c) 2013 John Wiley & Sons, Ltd.
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| 31. |
- Klaus, Marcus
(författare)
-
Decadal increase in groundwater inorganic carbon concentrations across Sweden
- 2023
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Ingår i: Communications earth & environment. - 2662-4435. ; 4
-
Tidskriftsartikel (refereegranskat)abstract
- Groundwater concentrations of dissolved inorganic carbon and carbon dioxide have increased by 28% and 49%, respectively, across Sweden between 1980 and 2020 due to partial recovery from historic anthropogenic acid deposition and increased soil respiration, suggest geochemical model calculations.Groundwater is one of the largest continental carbon reservoirs and tightly linked to globally important carbon fluxes such as uptake on land, degassing from inland waters and delivery to oceans. Despite emerging evidence that these fluxes are sensitive to environmental changes, long-term carbon dynamics in groundwater remain widely unknown. Here I show that dissolved inorganic carbon and carbon dioxide concentrations in groundwater, calculated from environmental monitoring data (e.g. alkalinity, pH), have increased on average by 28% and 49%, respectively, across Sweden during 1980-2020. I attribute the observed changes mainly to a partial recovery from atmospheric sulfate deposition and associated shifts in weathering pathways, but also to enhanced soil respiration. The results highlight previously neglected long-term and large-scale dynamics in groundwater carbon cycling. These dynamics should be included in carbon cycle models for accurate evaluations and predictions of the effects of environmental changes on landscape and global carbon stocks and fluxes.
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| 32. |
- Klaus, Marcus, et al.
(författare)
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Depth and basin shape constrain ecosystem metabolism in lakes dominated by benthic primary producers
- 2022
-
Ingår i: Limnology and Oceanography. - : Association for the Sciences of Limnology and Oceanography. - 0024-3590 .- 1939-5590. ; 67:12, s. 2763-2778
-
Tidskriftsartikel (refereegranskat)abstract
- Metabolism is one of the most fundamental ecosystem processes, but the drivers of variation in metabolic rates among lakes dominated by benthic primary producers remain poorly constrained. Here, we report the magnitudes and potential drivers of whole-lake metabolism across 43 Swedish arctic–alpine lakes, based on the free-water diel oxygen technique with sondes deployed during the open-water season near the surface and bottom of the lakes. Gross primary production (GPP) and ecosystem respiration (R) were strongly coupled and ranged from 0.06 to 0.45 mg and 0.05 to 0.43 mg L−1 d−1 among lakes. On average, GPP and R decreased eightfold from relatively shallow to deep lakes (mean depth 0.5–10.9 m) and twofold from concave to convex lakes (mean depth: maximum depth 0.2–0.5). We attribute this to light limitation and shape-specific sensitivity of benthic GPP to disturbance by lake ice. Net ecosystem production (GPP-R) ranged from −0.09 to 0.14 mg L−1 d−1 and switched, on average, from positive to negative towards deeper lakes and lakes richer in dissolved organic carbon (DOC; 0.5–7.4 mg DOC L−1). Uncertainties in metabolism estimates were high (around one and three times mean R and GPP), especially in deep lakes with low insulation and diurnally variable wind speed. Our results confirm the role of DOC in stimulating net heterotrophy and highlight novel effects of lake shape on productivity in benthic-dominated lake ecosystems and its response to changes in lake ice cover.
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| 33. |
- Klaus, Marcus, 1988-, et al.
(författare)
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Does clearcut forestry influence aquatic greenhouse gas emissions?
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- Forest clearcutting generally increase exports of carbon and nitrogen to downstream aquatic systems. Although these losses affect the greenhouse gas budget of managed forests, it is unknown if they modify greenhouse gas emissions of recipient inland waters. To assess this question, we quantified atmospheric fluxes of carbon dioxide (CO2) methane (CH4) and nitrous oxide (N2O) of humic lakes and their inlet streams in four boreal catchments of which two were treated with forest clearcuts (18% and 44% of the catchment area) using a Before-After/Control-Impact-experiment. We measured gas concentrations and hydrological and physicochemical water characteristics in hillslope groundwater, along stream transects and at multiple locations in lakes at 2-hourly to biweekly intervals throughout the snow-free season over a four year period. These measurements were combined with atmospheric gas transfer measurements and models to calculate aquatic greenhouse gas emissions. Forest clearcutting did not change greenhouse gas emissions from streams or lakes, despite significant increases of CO2 and CH4 concentrations in hillslope groundwater. Clearcut effects on groundwater were likely buffered in the riparian zone. Hence, the greenhouse gas budget of forests initially after clearcutting is unlikely to be confounded by aquatic greenhouse gas emissions. However, our findings should be extrapolated with caution to other environments. Here, site-specific conditions makes our study system representative for systems where clearcutting causes only a limited initial impact on catchment hydrology and biogeochemistry.
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| 34. |
- Klaus, Marcus
(författare)
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Escalating Carbon Export from High-Elevation Rivers in a Warming Climate
- 2024
-
Ingår i: Environmental Science and Technology. - 0013-936X .- 1520-5851. ; 58, s. 7032 - 7044
-
Tidskriftsartikel (refereegranskat)abstract
- High-elevation mountains have experienced disproportionately rapid warming, yet the effect of warming on the lateral export of terrestrial carbon to rivers remains poorly explored and understood in these regions. Here, we present a long-term data set of dissolved inorganic carbon (DIC) and a more detailed, short-term data set of DIC, delta C-13(DIC), and organic carbon from two major rivers of the Qinghai-Tibetan Plateau, the Jinsha River (JSR) and the Yalong River (YLR). In the higher-elevation JSR with similar to 51% continuous permafrost coverage, warming (>3 degrees C) and increasing precipitation coincided with substantially increased DIC concentrations by 35% and fluxes by 110%. In the lower-elevation YLR with similar to 14% continuous permafrost, such increases did not occur despite a comparable extent of warming. Riverine concentrations of dissolved and particulate organic carbon increased with discharge (mobilization) in both rivers. In the JSR, DIC concentrations transitioned from dilution (decreasing concentration with discharge) in earlier, colder years to chemostasis (relatively constant concentration) in later, warmer years. This changing pattern, together with lighter delta C-13(DIC) under high discharge, suggests that permafrost thawing boosts DIC production and export via enhancing soil respiration and weathering. These findings reveal the predominant role of warming in altering carbon lateral export by escalating concentrations and fluxes and modifying export patterns.
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| 35. |
- Klaus, Marcus, 1988-, et al.
(författare)
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Estimates of ecosystem metabolism in unproductive lakes with inclusion of physical oxygen fluxes
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- Whole-lake metabolism estimates based on free-water oxygen measurements may be compromised in unproductive lakes if the transport of oxygen by physical processes is neglected and large relative to biologically induced changes. Here, we quantify how oxygen fluxes associated with atmospheric exchange, vertical mixing and internal waves modify metabolism estimates in five unproductive boreal, brown water lakes. Water temperature and dissolved oxygen concentrations were measured at five minute intervals at 5-8 depths for 8-70 days per lake from May to September 2015. We estimated daily metabolism using three inverse Bayesian models accounting for atmospheric gas exchange using a (1) conventional wind-speed model and a (2) surface renewal model based on near-surface turbulence, and (3) accounting for within lake mixing by deepening of the actively mixing layer and the coefficient of eddy diffusivity. Gross primary production (GPP), ecosystem respiration (ER) and net ecosystem production (NEP) ranged from 0 to 0.9, -0.3 to -2.5 and -0.2 to -1.6 g C m-3 d-1, respectively. Metabolism estimates were reduced by up to 400% if oxygen time series were filtered to remove effects of internal waves and thermocline up- and downwelling, which have likely caused large changes in concentrations. Metabolism estimates differed by 0-25% depending on the atmospheric gas transfer model used and by 0-120% depending on whether fluxes from vertical mixing were considered. Almost half of the metabolism estimates were unreasonable (GPP<0 or ER>0), and these largely coincided with enhanced (up to 300%) diel cycles in physical oxygen fluxes. We conclude that physical processes should be explicitly assessed in three dimensions when using the free-water oxygen method to model metabolism in unproductive lakes.
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| 36. |
- Klaus, Marcus, et al.
(författare)
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Evaluating stream CO2 outgassing via drifting and anchored flux chambers in a controlled flume experiment
- 2021
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Ingår i: Biogeosciences. - : Copernicus GmbH. - 1726-4170 .- 1726-4189. ; 18, s. 1223-1240
-
Tidskriftsartikel (refereegranskat)abstract
- Carbon dioxide (CO2) emissions from running waters represent a key component of the global carbon cycle. However, quantifying CO2 fluxes across air-water boundaries remains challenging due to practical difficulties in the estimation of reach-scale standardized gas exchange velocities (k(600)) and water equilibrium concentrations. Whereas craft-made floating chambers supplied by internal CO2 sensors represent a promising technique to estimate CO2 fluxes from rivers, the existing literature lacks rigorous comparisons among differently designed chambers and deployment techniques. Moreover, as of now the uncertainty of k(600) estimates from chamber data has not been evaluated. Here, these issues were addressed by analysing the results of a flume experiment carried out in the Summer of 2019 in the Lunzer:::Rinnen - Experimental Facility (Austria). During the experiment, 100 runs were performed using two different chamber designs (namely, a standard chamber and a flexible foil chamber with an external floating system and a flexible sealing) and two different deployment modes (drifting and anchored). The runs were performed using various combinations of discharge and channel slope, leading to variable turbulent kinetic energy dissipation rates (1.5 x 10(-3) epsilon < 1 x 10(-1) m(2) s(-3)). Estimates of gas exchange velocities were in line with the existing literature (4 < k(600) < 32 m(2) s(-3)), with a general increase in k(600) for larger turbulent kinetic energy dissipation rates. The flexible foil chamber gave consistent k600 patterns in response to changes in the slope and/or the flow rate. Moreover, acoustic Doppler velocimeter measurements indicated a limited increase in the turbulence induced by the flexible foil chamber on the flow field (22 % increase in 8, leading to a theoretical 5 % increase in k(600)). The uncertainty in the estimate of gas exchange velocities was then estimated using a generalized likelihood uncertainty estimation (GLUE) procedure. Overall, uncertainty in k(600) was moderate to high, with enhanced uncertainty in high-energy set-ups. For the anchored mode, the standard deviations of k 6 00 were between 1.6 and 8.2 m d(-1), whereas significantly higher values were obtained in drifting mode. Interestingly, for the standard chamber the uncertainty was larger (+ 20 %) as compared to the flexible foil chamber. Our study suggests that a flexible foil design and the anchored deployment might be useful techniques to enhance the robustness and the accuracy of CO2 measurements in low-order streams. Furthermore, the study demonstrates the value of analytical and numerical tools in the identification of accurate estimations for gas exchange velocities. These findings have important implications for improving estimates of greenhouse gas emissions and reaeration rates in running waters.
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| 37. |
- Klaus, Marcus, et al.
(författare)
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Evaluations of Climate and Land Management Effects on Lake Carbon Cycling Need to Account Temporal Variability in CO2 Concentration
- 2019
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Ingår i: Global Biogeochemical Cycles. - : American Geophysical Union (AGU). - 0886-6236 .- 1944-9224. ; 33:3, s. 243-265
-
Tidskriftsartikel (refereegranskat)abstract
- Carbon dioxide (CO2) concentrations in lakes vary strongly over time. This variability is rarely captured by environmental monitoring but is crucial for accurately assessing the magnitude of lake CO2 emissions. However, it is unknown to what extent temporal variability needs to be captured to understand important drivers of lake carbon cycling such as climate and land management. We used environmental monitoring data of Swedish forest lakes collected in autumn (n = 439) and throughout the whole open water season (n = 22) from a wet and a dry year to assess temporal variability in effects of climate and forestry on CO2 concentrations across lakes. Effects differed depending on the season and year sampled. According to cross-lake comparisons based on autumn data, CO2 concentrations increased with annual mean air temperature (dry year) or catchment forest productivity (wet year) but were not related to colored dissolved organic matter concentrations. In contrast, open water-season averaged CO2 concentrations were similar across temperature and productivity gradients but increased with colored dissolved organic matter. These contradictions resulted from scale mismatches in input data, lead to weak explanatory power (R-2 = 9-32%), and were consistent across published data from 79 temperate, boreal, and arctic lakes. In a global survey of 144 published studies, we identified a trade-off between temporal and spatial coverage of CO2 sampling. This trade-off clearly determines which conclusions are drawn from landscape-scale CO(2 )assessments. Accurate evaluations of the effects of climate and land management require spatially and temporally representative data that can be provided by emerging sensor technologies and forms of collaborative sampling.
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| 38. |
- Klaus, Marcus, et al.
(författare)
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Greenhouse gas emissions from boreal inland waters unchanged after forest harvesting
- 2018
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Ingår i: Biogeosciences. - Goettingen, Germany : Copernicus GmbH. - 1726-4170 .- 1726-4189. ; 15:18, s. 5575-5594
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Tidskriftsartikel (refereegranskat)abstract
- Forestry practices often result in an increased export of carbon and nitrogen to downstream aquatic systems. Although these losses affect the greenhouse gas (GHG) budget of managed forests, it is unknown if they modify GHG emissions of recipient aquatic systems. To assess this question, air-water fluxes of carbon dioxide (CO2), methane (CH4) and nitrous oxide (N2O) were quantified for humic lakes and their inlet streams in four boreal catchments using a before-after control-impact experiment. Two catchments were treated with forest clear-cuts followed by site preparation (18 % and 44 % of the catchment area). GHG fluxes and hydrological and physicochemical water characteristics were measured at multiple locations in lakes and streams at high temporal resolution throughout the summer season over a 4-year period. Both lakes and streams evaded all GHGs. The treatment did not significantly change GHG fluxes in streams or lakes within 3 years after the treatment, despite significant increases of CO2 and CH4 concentrations in hillslope groundwater. Our results highlight that GHGs leaching from forest clear-cuts may be buffered in the riparian zone-stream continuum, likely acting as effective biogeochemical processors and wind shelters to prevent additional GHG evasion via downstream inland waters. These findings are representative of low productive forests located in relatively flat landscapes where forestry practices cause only a limited initial impact on catchment hydrology and biogeochemistry.
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| 39. |
- Klaus, Marcus, et al.
(författare)
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Integrated methodology to assess windthrow impacts on forest stands under climate change
- 2011
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Ingår i: Forest Ecology and Management. - : Elsevier BV. - 0378-1127 .- 1872-7042. ; 261:11, s. 1799-1810
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Tidskriftsartikel (refereegranskat)abstract
- Storms have a high potential to cause severe ecological and economic losses in forests. We performed a logistic regression analysis to create a storm damage sensitivity index for North Rhine-Westphalia, Germany, based on damage data of the storm event "Kyrill". Future storm conditions were derived from two regional climate models. We combined these measures to an impact metric, which is embedded in a broader vulnerability framework and quantifies the impacts of winter storms under climate change until 2060. Sensitivity of forest stands to windthrow was mainly driven by a high proportion of coniferous trees, a complex orography and poor quality soils. Both climate models simulated an increase in the frequency of severe storms, whereby differences between regions and models were substantial. Potential impacts will increase although they will vary among regions with the highest impacts in the mountainous regions. Our results emphasise the need for combining storm damage sensitivity with climate change signals in order to develop forest protection measures.
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| 40. |
- Klaus, Marcus, 1988-
(författare)
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Land use effects on greenhouse gas emissions from boreal inland waters
- 2017
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Anthropogenic activities perturb the global carbon and nitrogen cycle with large implications for the earth’s climate. Land use activities deliver excess carbon and nitrogen to aquatic ecosystems. In the boreal biome, this is mainly due to forestry and atmospheric deposition. Yet, impacts of these anthropogenically mediated inputs of carbon and nitrogen on the processing and emissions of greenhouse gases from recipient streams and lakes are largely unknown. Understanding the ecosystem-scale response of aquatic greenhouse gas cycling to land use activities is critical to better predict anthropogenic effects on the global climate system and design more efficient climate change mitigation measures.This thesis assesses the effects of forest clearcutting and nitrate enrichment on greenhouse gas emissions from boreal inland waters. It also advances methods to quantify sources and sinks of these emissions. Short-term clearcut and nitrate enrichment effects were assessed using two whole-ecosystem experiments, carried out over four years in nine headwater catchments in boreal Sweden. In these experiments, I measured or modeled air-water fluxes of carbon dioxide (CO2), methane (CH4) and nitrous oxide (N2O), combining concentration, ebullition and gas-transfer velocity measurements in groundwater, streams and lakes. By using Swedish national monitoring data, I also assessed broad-scale effects of forest clearcutting by relating CO2 concentrations in 439 forest lakes to the areal proportion of catchment forest clearcuts. To improve quantifications of CO2 sources and sinks in lakes, I analyzed time series of oxygen concentrations and water temperature in five lakes on conditions under which whole-lake metabolism estimates can be inferred from oxygen dynamics given the perturbing influence of atmospheric exchange, mixing and internal waves.The experiments revealed that aquatic greenhouse gas emissions did not respond to nitrate addition or forest clearcutting. Importantly, riparian zones likely buffered clearcut-induced increases in groundwater CO2 and CH4 concentrations. Experimental results were confirmed by monitoring data showing no relationship between CO2 patterns across Swedish lakes and clearcut gradients. Yet, conclusions on internal vs. external CO2 controls largely depended on whether spatially or temporally resolved data was used. Partitioning CO2 sources and sinks in lakes using time series of oxygen was greatly challenged by physical transport and mixing processes.Conclusively, ongoing land use activities in the boreal zone are unlikely to have major effect on headwater greenhouse gas emissions. Yet, system- and scale specific effects cannot be excluded. To reveal these effects, there is a large need of improved methods and design of monitoring programs that account for the large spatial and temporal variability in greenhouse gas dynamics and its controls by abiotic and biotic factors.
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| 41. |
- Klaus, Marcus, et al.
(författare)
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Listening to air–water gas exchange in running waters
- 2019
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Ingår i: Limnology and Oceanography. - : Association for the Sciences of Limnology and Oceanography. - 1541-5856. ; 17:7, s. 395-414
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Tidskriftsartikel (refereegranskat)abstract
- Air–water gas exchange velocities (k) are critical components of many biogeochemical and ecological process studies in aquatic systems. However, their high spatiotemporal variability is difficult to capture with traditional methods, especially in turbulent flow. Here, we investigate the potential of sound spectral analysis to infer k in running waters, based on the rationale that both turbulence and entrained bubbles drive gas exchange and cause a characteristic sound. We explored the relationship between k and sound spectral properties using laboratory experiments and field observations under a wide range of turbulence and bubble conditions. We estimated k using flux chamber measurements of CO2 exchange and recorded sound above and below the water surface by microphones and hydrophones, respectively. We found a strong influence of turbulence and bubbles on sound pressure levels (SPLs) at octave bands of 31.5 Hz and 1000 Hz, respectively. The difference in SPLs at these bands and background noise bands showed a linear correlation with k both in the laboratory (R2 = 0.93–0.99) and in the field (median R2 = 0.42–0.90). Underwater sound indices outperformed aerial sound indices in general, and indices based on hydraulic parameters in particular, in turbulent and bubbly surface flow. The results highlight the unique potential of acoustic techniques to predict k, isolate mechanisms, and improve the spatiotemporal coverage of k estimates in bubbly flow.
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| 42. |
- Klaus, Marcus, 1988-, et al.
(författare)
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Neglecting seasonality causes biased view of climate and forestry impacts on lake CO2 cycling
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- Lakes emit carbon dioxide (CO2) at globally significant rates. These emissions may be controlled by land use and climate. Disentangling these interactions is a prerequisite to accurately predicting anthropogenic impacts on carbon cycling in lake rich regions. We used environmental monitoring data of lakes collected in autumn (n = 439) and throughout the whole open-water season (n = 22) from a wet and a dry year in Swedish forest catchments to evaluate direct and indirect effects of temperature, precipitation, wind speed, forest productivity and forest clearcutting on lake CO2 concentrations. We found that trends in CO2 concentrations along climate and forestry gradients do not always correspond between autumn and open-water season averages, implying the need of validation of patterns derived from snap-shot data alone. According to spatially resolved data, autumn CO2 concentrations increased with mean annual air temperature (dry year) or catchment forest productivity (wet year) but were not coupled to colored dissolved organic matter (CDOM) concentrations. In contrast, open-water season averaged CO2 concentrations were constant across temperature and productivity gradients but increased with CDOM. These antagonistic results suggest that our fundamental understanding of the controls of CO2 in lakes depends on whether spatially or temporally resolved data is used. Hence, trade-offs in sampling efforts clearly limit the questions that can be addressed regarding climate and land use effects on lake carbon cycling.
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| 43. |
- Klaus, Marcus, et al.
(författare)
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Tree line advance reduces mixing and oxygen concentrations in arctic–alpine lakes through wind sheltering and organic carbon supply
- 2021
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Ingår i: Global Change Biology. - : John Wiley & Sons. - 1354-1013 .- 1365-2486. ; 27:18, s. 4238-4253
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Tidskriftsartikel (refereegranskat)abstract
- Oxygen depletion in lake bottom waters has adverse impacts on ecosystem health including decreased water quality from release of nutrients and reduced substances from sediments, and the reduction of fish growth and reproduction. Depletion occurs when oxygen is consumed during decomposition of organic matter, and oxygen replenishment is limited by water column stratification. Arctic–alpine lakes are often well mixed and oxygenated, but rapid climate change in these regions is an important driver of shifts in catchment vegetation that could affect the mixing and oxygen dynamics of lakes. Here, we analyze high-resolution time series of dissolved oxygen concentration and temperature profiles in 40 Swedish arctic–alpine lakes across the tree line ecotone. The lakes stratified for 1−125 days, and during stratification, near-bottom dissolved oxygen concentrations changed by −0.20 to +0.15 mg L−1 day−1, resulting in final concentrations of 1.1−15.5 mg L−1 at the end of the longest stratification period. Structural equation modeling revealed that lakes with taller shoreline vegetation relative to lake area had higher dissolved organic carbon concentrations and oxygen consumption rates, but also lower wind speeds and longer stratification periods, and ultimately, lower near-bottom dissolved oxygen concentrations. We use an index of shoreline canopy height and lake area to predict variations among our study lakes in near-bottom dissolved oxygen concentrations at the end of the longest stratification period (R2 = 0.41). Upscaling this relationship to 8392 Swedish arctic–alpine lakes revealed that near-bottom dissolved oxygen concentrations drop below 3, 5, and 7 mg L−1 in 15%, 32%, and 53% of the lakes and that this proportion is sensitive (5%−22%, 13%−45%, and 29%−69%) to hypothetical tree line shifts observed in the past century or reconstructed for the Holocene (±200 m elevation; ±0.5° latitude). Assuming space-for-time substitution, we predict that tree line advance will decrease near-bottom dissolved oxygen concentrations in many arctic–alpine lakes.
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| 44. |
- Klaus, Marcus
(författare)
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Unraveling the Contribution of Turbulence and Bubbles to Air-Water Gas Exchange in Running Waters
- 2022
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Ingår i: Journal of Geophysical Research: Biogeosciences. - 2169-8953 .- 2169-8961. ; 127
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Tidskriftsartikel (refereegranskat)abstract
- Quantifying air-water gas exchange is critical for estimating greenhouse gas fluxes and metabolism in aquatic ecosystems. In high-energy streams, the gas exchange rate k is poorly constrained, due to an incomplete understanding of turbulence and bubble contributions to k. We performed a flume experiment with air bubble additions to evaluate the combined effects of turbulence and bubbles on k for helium, argon, xenon, and methane. We created contrasting hydraulic conditions by varying channel slope, bed roughness, water discharge, and bubble flux. We found that k increased from 1-4 to 17-66 m d(-1) with increases in turbulence and bubble flux metrics. Mechanistic models that explicitly account for these metrics, as well as gas diffusivity and solubility, agreed well with the data and indicated that bubble-mediated gas exchange accounted for 64-93% of k. Bubble contributions increased with bubble flux but were independent of gas type, as bubbles did not equilibrate with the water. This was evident through modeled bubble life and equilibration times inferred from bubble size distributions obtained from underwater sound spectra. Sound spectral properties correlated well with turbulence and bubble flux metrics. Our results demonstrate that (a) mechanistic models can be applied to separate free surface- and bubble-mediated gas exchange in running waters, (b) bubble life and equilibration times are critical for accurate scaling of k between different gases, and (c) ambient sound spectra can be used to approximate contributions of turbulence and bubbles.
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| 45. |
- Klaus, Marcus, 1988-, et al.
(författare)
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Weak response of greenhouse gas emissions to whole lake N enrichment
- 2018
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Ingår i: Limnology and Oceanography. - : Wiley. - 0024-3590 .- 1939-5590. ; 63, s. S340-S353
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Tidskriftsartikel (refereegranskat)abstract
- Global warming and land use scenarios suggest increased 21st century nitrogen (N) inputs to aquatic systems. Nitrogen affects in-lake processing and, potentially, atmospheric exchange of greenhouse gases, probably being most relevant in unproductive systems. Here, we test for the first time the effect of a whole-lake experimental increase (threefold) in external nitrate loads on the atmospheric exchange of carbon dioxide (CO2), methane (CH4), and nitrous oxide (N2O) from N-limited unproductive boreal lakes. Nitrate enrichment effects were assessed within a paired Before/After-Control/Impact framework based on 2-hourly to biweekly surface-water sampling of dissolved gas concentrations, and monthly whole-lake inventory surveys, carried out over 4 yrs in six lakes. Nitrate enrichment did not affect gas exchange during summer stratification and whole-lake gas inventories during summer and winter stratification. This finding specifically emphasizes the modest role of internal carbon fixation for the CO2 dynamics of unproductive boreal lakes. A global synthesis of 52 published studies revealed a wide range of nutrient fertilization effects, both in systems similar to our experimental lakes, and other more productive systems. Effects depended mainly on the spatiotemporal scale of the study and became more pronounced when N enrichment was combined with phosphorous. Conclusively, although short-term and habitat-specific effects can occur, changes in N supply have only weak whole-ecosystem effects on greenhouse gas emissions from unproductive boreal lakes.
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| 46. |
- Klionsky, Daniel J., et al.
(författare)
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Guidelines for the use and interpretation of assays for monitoring autophagy
- 2012
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Ingår i: Autophagy. - : Informa UK Limited. - 1554-8635 .- 1554-8627. ; 8:4, s. 445-544
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Forskningsöversikt (refereegranskat)abstract
- In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes. A key point that needs to be emphasized is that there is a difference between measurements that monitor the numbers or volume of autophagic elements (e.g., autophagosomes or autolysosomes) at any stage of the autophagic process vs. those that measure flux through the autophagy pathway (i.e., the complete process); thus, a block in macroautophagy that results in autophagosome accumulation needs to be differentiated from stimuli that result in increased autophagic activity, defined as increased autophagy induction coupled with increased delivery to, and degradation within, lysosomes (in most higher eukaryotes and some protists such as Dictyostelium) or the vacuole (in plants and fungi). In other words, it is especially important that investigators new to the field understand that the appearance of more autophagosomes does not necessarily equate with more autophagy. In fact, in many cases, autophagosomes accumulate because of a block in trafficking to lysosomes without a concomitant change in autophagosome biogenesis, whereas an increase in autolysosomes may reflect a reduction in degradative activity. Here, we present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes. These guidelines are not meant to be a formulaic set of rules, because the appropriate assays depend in part on the question being asked and the system being used. In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to monitor autophagy. In these guidelines, we consider these various methods of assessing autophagy and what information can, or cannot, be obtained from them. Finally, by discussing the merits and limits of particular autophagy assays, we hope to encourage technical innovation in the field.
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| 47. |
- Kunnus, Kristjan, et al.
(författare)
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Vibrational wavepacket dynamics in Fe carbene photosensitizer determined with femtosecond X-ray emission and scattering
- 2020
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Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- The non-equilibrium dynamics of electrons and nuclei govern the function of photoactive materials. Disentangling these dynamics remains a critical goal for understanding photoactive materials. Here we investigate the photoinduced dynamics of the [Fe(bmip)2]2+ photosensitizer, where bmip = 2,6-bis(3-methyl-imidazole-1-ylidine)-pyridine, with simultaneous femtosecond-resolution Fe Kα and Kβ X-ray emission spectroscopy (XES) and X-ray solution scattering (XSS). This measurement shows temporal oscillations in the XES and XSS difference signals with the same 278 fs period oscillation. These oscillations originate from an Fe-ligand stretching vibrational wavepacket on a triplet metal-centered (3MC) excited state surface. This 3MC state is populated with a 110 fs time constant by 40% of the excited molecules while the rest relax to a 3MLCT excited state. The sensitivity of the Kα XES to molecular structure results from a 0.7% average Fe-ligand bond length shift between the 1 s and 2p core-ionized states surfaces.
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| 48. |
- Lindskog, Marcus, 1980-
(författare)
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Is the Intuitive Statistician Eager or Lazy? : Exploring the Cognitive Processes of Intuitive Statistical Judgments
- 2013
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Numerical information is ubiquitous and people are continuously engaged in evaluating it by means of intuitive statistical judgments. Much research has evaluated if people’s judgments live up to the norms of statistical theory but directed far less attention to the cognitive processes that underlie the judgments.The present thesis outlines, compares, and tests two cognitive models for intuitive statistical judgments, summarized in the metaphors of the lazy and eager intuitive statistician. In short, the lazy statistician postpones judgments to the time of a query when the properties of a small sample of values retrieved from memory serve as proxies for population properties. In contrast, the eager statistician abstracts summary representations of population properties online from incoming data.Four empirical studies were conducted. Study I outlined the two models and investigated whether an eager or a lazy statistician best describes how people make intuitive statistical judgments. In general the results supported the notion that people spontaneously engage in a lazy process. Under certain specific conditions, however, participants were able to induce abstract representations of the experienced data. Study II and Study III extended the models to describe naive point estimates (Study II) and inference about a generating distribution (Study III). The results indicated that both the former and the latter type of judgment was better described by a lazy than an eager model. Finally, Study IV, building on the support in Studies I-III, investigated boundary conditions for a lazy model by exploring if statistical judgments are influenced by common memory effects (primacy and recency). The results indicated no such effects, suggesting that the sampling from long-term memory in a lazy process is not conditional on when the data is encountered.The present thesis makes two major contributions. First, the lazy and eager models are first attempts at outlining a process model that could possibly be applied for a large variety of statistical judgments. Second, because a lazy process imposes boundary conditions on the accuracy of statistical judgments, the results suggest that the limitations of a lazy intuitive statistician would need to be taken into consideration in a variety of situations.
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| 49. |
- Menkveld, Albert J., et al.
(författare)
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Nonstandard Errors
- 2024
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Ingår i: JOURNAL OF FINANCE. - : Wiley-Blackwell. - 0022-1082 .- 1540-6261. ; 79:3, s. 2339-2390
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Tidskriftsartikel (refereegranskat)abstract
- In statistics, samples are drawn from a population in a data-generating process (DGP). Standard errors measure the uncertainty in estimates of population parameters. In science, evidence is generated to test hypotheses in an evidence-generating process (EGP). We claim that EGP variation across researchers adds uncertainty-nonstandard errors (NSEs). We study NSEs by letting 164 teams test the same hypotheses on the same data. NSEs turn out to be sizable, but smaller for more reproducible or higher rated research. Adding peer-review stages reduces NSEs. We further find that this type of uncertainty is underestimated by participants.
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| 50. |
- Mullins, Niamh, et al.
(författare)
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GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores
- 2019
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Ingår i: American Journal of Psychiatry. - : American Psychiatric Association Publishing. - 0002-953X .- 1535-7228. ; 176:8, s. 651-660
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Tidskriftsartikel (refereegranskat)abstract
- Objective: More than 90% of people who attempt suicide have a psychiatric diagnosis; however, twin and family studies suggest that the genetic etiology of suicide attempt is partially distinct from that of the psychiatric disorders themselves. The authors present the largest genome-wide association study (GWAS) on suicide attempt, using cohorts of individuals with major depressive disorder, bipolar disorder, and schizophrenia from the Psychiatric Genomics Consortium.Methods: The samples comprised 1,622 suicide attempters and 8,786 nonattempters with major depressive disorder; 3,264 attempters and 5,500 nonattempters with bipolar disorder; and 1,683 attempters and 2,946 nonattempters with schizophrenia. A GWAS on suicide attempt was performed by comparing attempters to nonattempters with each disorder, followed by a meta-analysis across disorders. Polygenic risk scoring was used to investigate the genetic relationship between suicide attempt and the psychiatric disorders.Results: Three genome-wide significant loci for suicide attempt were found: one associated with suicide attempt in major depressive disorder, one associated with suicide attempt in bipolar disorder, and one in the meta-analysis of suicide attempt in mood disorders. These associations were not replicated in independent mood disorder cohorts from the UK Biobank and iPSYCH. No significant associations were found in the meta-analysis of all three disorders. Polygenic risk scores for major depression were significantly associated with suicide attempt in major depressive disorder (R2=0.25%), bipolar disorder (R2=0.24%), and schizophrenia (R2=0.40%).Conclusions: This study provides new information on genetic associations and demonstrates that genetic liability for major depression increases risk for suicide attempt across psychiatric disorders. Further collaborative efforts to increase sample size may help to robustly identify genetic associations and provide biological insights into the etiology of suicide attempt.
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