| 1. |
- Kanai, M, et al.
(författare)
-
- 2023
-
swepub:Mat__t
|
|
| 2. |
- Niemi, MEK, et al.
(författare)
-
- 2021
-
swepub:Mat__t
|
|
| 3. |
|
|
| 4. |
-
- 2019
-
Tidskriftsartikel (refereegranskat)
|
|
| 5. |
- Sliz, E., et al.
(författare)
-
Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
- 2023
-
Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
-
Tidskriftsartikel (refereegranskat)abstract
- Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.
|
|
| 6. |
- Tabassum, R, et al.
(författare)
-
Genetic architecture of human plasma lipidome and its link to cardiovascular disease
- 2019
-
Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4329-
-
Tidskriftsartikel (refereegranskat)abstract
- Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10−8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD.
|
|
| 7. |
- Kurki, MI, et al.
(författare)
-
FinnGen provides genetic insights from a well-phenotyped isolated population
- 2023
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 613:7944, s. 508-
-
Tidskriftsartikel (refereegranskat)abstract
- Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These variants survived the founding bottleneck rather than being distributed over a large number of ultrarare variants. Although this effect is well established in Mendelian genetics, its value in common disease genetics is less explored1,2. FinnGen aims to study the genome and national health register data of 500,000 Finnish individuals. Given the relatively high median age of participants (63 years) and the substantial fraction of hospital-based recruitment, FinnGen is enriched for disease end points. Here we analyse data from 224,737 participants from FinnGen and study 15 diseases that have previously been investigated in large genome-wide association studies (GWASs). We also include meta-analyses of biobank data from Estonia and the United Kingdom. We identified 30 new associations, primarily low-frequency variants, enriched in the Finnish population. A GWAS of 1,932 diseases also identified 2,733 genome-wide significant associations (893 phenome-wide significant (PWS), P < 2.6 × 10–11) at 2,496 (771 PWS) independent loci with 807 (247 PWS) end points. Among these, fine-mapping implicated 148 (73 PWS) coding variants associated with 83 (42 PWS) end points. Moreover, 91 (47 PWS) had an allele frequency of <5% in non-Finnish European individuals, of which 62 (32 PWS) were enriched by more than twofold in Finland. These findings demonstrate the power of bottlenecked populations to find entry points into the biology of common diseases through low-frequency, high impact variants.
|
|
| 8. |
|
|
| 9. |
|
|
| 10. |
|
|
| 11. |
|
|
| 12. |
|
|
| 13. |
|
|
| 14. |
|
|
| 15. |
- Bhattacharya, S. K., et al.
(författare)
-
5 year efficacy of a bivalent killed whole-cell oral cholera vaccine in Kolkata, India: A cluster-randomised, double-blind, placebo-controlled trial
- 2013
-
Ingår i: Lancet. Infectious Diseases. - 1473-3099 .- 1474-4457. ; 13:12, s. 1050-1056
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Efficacy and safety of a two-dose regimen of bivalent killed whole-cell oral cholera vaccine (Shantha Biotechnics, Hyderabad, India) to 3 years is established, but long-term efficacy is not. We aimed to assess protective efficacy up to 5 years in a slum area of Kolkata, India. Methods: In our double-blind, cluster-randomised, placebo-controlled trial, we assessed incidence of cholera in non-pregnant individuals older than 1 year residing in 3933 dwellings (clusters) in Kolkata, India. We randomly allocated participants, by dwelling, to receive two oral doses of modified killed bivalent whole-cell cholera vaccine or heat-killed Escherichia coli K12 placebo, 14 days apart. Randomisation was done by use of a computer-generated sequence in blocks of four. The primary endpoint was prevention of episodes of culture-confirmed Vibrio cholerae O1 diarrhoea severe enough for patients to seek treatment in a health-care facility. We identified culture-confirmed cholera cases among participants seeking treatment for diarrhoea at a study clinic or government hospital between 14 days and 1825 days after receipt of the second dose. We assessed vaccine protection in a per-protocol population of participants who had completely ingested two doses of assigned study treatment. Findings: 69 of 31932 recipients of vaccine and 219 of 34968 recipients of placebo developed cholera during 5 year follow-up (incidence 2·2 per 1000 in the vaccine group and 6·3 per 1000 in the placebo group). Cumulative protective efficacy of the vaccine at 5 years was 65% (95% CI 52-74; p<0·0001), and point estimates by year of follow-up suggested no evidence of decline in protective efficacy. Interpretation: Sustained protection for 5 years at the level we reported has not been noted previously with other oral cholera vaccines. Established long-term efficacy of this vaccine could assist policy makers formulate rational vaccination strategies to reduce overall cholera burden in endemic settings. Funding: Bill & Melinda Gates Foundation and the governments of South Korea and Sweden. © 2013 Elsevier Ltd.
|
|
| 16. |
|
|
| 17. |
|
|
| 18. |
- Chittani, Martina, et al.
(författare)
-
TET2 and CSMD1 genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives.
- 2015
-
Ingår i: Journal of Hypertension. - 1473-5598. ; 33:6, s. 1301-1309
-
Tidskriftsartikel (refereegranskat)abstract
- Thiazide diuretics have been recommended as a first-line antihypertensive treatment, although the choice of 'the right drug in the individual essential hypertensive patient' remains still empirical. Essential hypertension is a complex, polygenic disease derived from the interaction of patient's genetic background with the environment. Pharmacogenomics could be a useful tool to pinpoint gene variants involved in antihypertensive drug response, thus optimizing therapeutic advantages and minimizing side effects.
|
|
| 19. |
|
|
| 20. |
|
|
| 21. |
|
|
| 22. |
|
|
| 23. |
|
|
| 24. |
- Brunelli, M., et al.
(författare)
-
Experimental Determination of Irreversible Entropy Production in out-of-Equilibrium Mesoscopic Quantum Systems
- 2018
-
Ingår i: Physical Review Letters. - 1079-7114 .- 0031-9007. ; 121:16
-
Tidskriftsartikel (refereegranskat)abstract
- By making use of a recently proposed framework for the inference of thermodynamic irreversibility in bosonic quantum systems, we experimentally measure and characterize the entropy production rates in the nonequilibrium steady state of two different physical systems a micromechanical resonator and a Bose-Einstein condensate each coupled to a high finesse cavity and hence also subject to optical loss. Key features of our setups, such as the cooling of the mechanical resonator and signatures of a structural quantum phase transition in the condensate, are reflected in the entropy production rates. Our work demonstrates the possibility to explore irreversibility in driven mesoscopic quantum systems and paves the way to a systematic experimental assessment of entropy production beyond the microscopic limit.
|
|
| 25. |
- Donges, Jonathan F., et al.
(författare)
-
Unified functional network and nonlinear time series analysis for complex systems science : The pyunicorn package
- 2015
-
Ingår i: Chaos. - : AIP Publishing. - 1054-1500 .- 1089-7682. ; 25:11
-
Tidskriftsartikel (refereegranskat)abstract
- We introduce the pyunicorn (Pythonic unified complex network and recurrence analysis toolbox) open source software package for applying and combining modern methods of data analysis and modeling from complex network theory and nonlinear time series analysis. pyunicorn is a fully object-oriented and easily parallelizable package written in the language Python. It allows for the construction of functional networks such as climate networks in climatology or functional brain networks in neuroscience representing the structure of statistical interrelationships in large data sets of time series and, subsequently, investigating this structure using advanced methods of complex network theory such as measures and models for spatial networks, networks of interacting networks, node-weighted statistics, or network surrogates. Additionally, pyunicorn provides insights into the nonlinear dynamics of complex systems as recorded in uni-and multivariate time series from a non-traditional perspective by means of recurrence quantification analysis, recurrence networks, visibility graphs, and construction of surrogate time series. The range of possible applications of the library is outlined, drawing on several examples mainly from the field of climatology.
|
|
| 26. |
|
|
| 27. |
|
|
| 28. |
- Donner, Philip, et al.
(författare)
-
Jipemoyo
- 1980
-
Bok (populärvet., debatt m.m.)
|
|
| 29. |
- Elgazali, Abdelkarem A. S., et al.
(författare)
-
Reactive gaseous mercury is generated from chloralkali factories resulting in extreme concentrations of mercury in hair of workers
- 2018
-
Ingår i: Scientific Reports. - : Nature Publishing Group. - 2045-2322. ; 8:1
-
Tidskriftsartikel (refereegranskat)abstract
- Occupational exposure of chloralkali workers to highly concentrated mercury (Hg) vapour has been linked to an increased risk of renal dysfunction and behavioural changes. It is generally believed that these workers are exposed to elemental Hg, which is used in abundance during the production process however, the lack in analytical techniques that would allow for identification of gaseous Hg species poses a challenge, which needs to be addressed in order to reach a consensus. Here, we present the results from simulated exposure studies, which provide sound evidence of higher adsorption rate of HgCl2 than Hg-0 and its irreversible bonding on the surface of hair. We found that chloralkali workers were exposed to HgCl2, which accumulated in extremely high concentrations on the hair surface, more than 1,000 times higher than expected from unexposed subjects and was positively correlated with Hg levels in the finger- and toenails.
|
|
| 30. |
|
|
| 31. |
- Harden, C, et al.
(författare)
-
Practice Guideline Summary: Sudden Unexpected Death in Epilepsy Incidence Rates and Risk Factors: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society
- 2017
-
Ingår i: Epilepsy currents. - : SAGE Publications. - 1535-7597 .- 1535-7511. ; 17:3, s. 180-187
-
Tidskriftsartikel (refereegranskat)abstract
- Objective: To determine the incidence rates of sudden unexpected death in epilepsy (SUDEP) in different epilepsy populations and address the question of whether risk factors for SUDEP have been identified. Methods: Systematic review of evidence; modified Grading Recommendations Assessment, Development and Evaluation process for developing conclusions; recommendations developed by consensus. Results: Findings for incidence rates based on 12 Class I studies include the following: SUDEP risk in children with epilepsy (aged 0–17 years) is 0.22/1,000 patient-years (95% CI 0.16–0.31) (high confidence in evidence). SUDEP risk increases in adults to 1.2/1,000 patient-years (95% CI 0.64–2.32) (low confidence in evidence). The major risk factor for SUDEP is the occurrence of generalized tonic-clonic seizures (GTCS); the SUDEP risk increases in association with increasing frequency of GTCS occurrence (high confidence in evidence). Recommendations: Level B: Clinicians caring for young children with epilepsy should inform parents/guardians that in 1 year, SUDEP typically affects 1 in 4,500 children; therefore, 4,499 of 4,500 children will not be affected. Clinicians should inform adult patients with epilepsy that SUDEP typically affects 1 in 1,000 adults with epilepsy per year; therefore, annually 999 of 1,000 adults will not be affected. For persons with epilepsy who continue to experience GTCS, clinicians should continue to actively manage epilepsy therapies to reduce seizures and SUDEP risk while incorporating patient preferences and weighing the risks and benefits of any new approach. Clinicians should inform persons with epilepsy that seizure freedom, particularly freedom from GTCS, is strongly associated with decreased SUDEP risk.
|
|
| 32. |
|
|
| 33. |
- Kuz'min, M. D., et al.
(författare)
-
Magnetic anisotropy of La2Co7
- 2015
-
Ingår i: Journal of Applied Physics. - : AIP Publishing. - 0021-8979 .- 1089-7550. ; 118:5
-
Tidskriftsartikel (refereegranskat)abstract
- A magnetization study of a La2Co7 single crystal has obtained the following anisotropy constants: K-1 = 1.4 MJ/m(3) and K-2 = 0.02 MJ/m(3) (at room temperature). The corresponding anisotropy field is 6.7 T; an earlier report of a much higher value (17 T) has not been confirmed. A significant (10%) magnetization anisotropy has been observed. Density-functional calculations are in qualitative agreement with the new data. (C) 2015 AIP Publishing LLC.
|
|
| 34. |
|
|
| 35. |
|
|
| 36. |
|
|
| 37. |
- Radebach, A., et al.
(författare)
-
Disentangling different types of El Nino episodes by evolving climate network analysis
- 2013
-
Ingår i: Physical Review E. Statistical, Nonlinear, and Soft Matter Physics. - 1539-3755 .- 1550-2376. ; 88:5, s. 052807-
-
Tidskriftsartikel (refereegranskat)abstract
- Complex network theory provides a powerful toolbox for studying the structure of statistical interrelationships between multiple time series in various scientific disciplines. In this work, we apply the recently proposed climate network approach for characterizing the evolving correlation structure of the Earth's climate system based on reanalysis data for surface air temperatures. We provide a detailed study of the temporal variability of several global climate network characteristics. Based on a simple conceptual view of red climate networks (i.e., networks with a comparably low number of edges), we give a thorough interpretation of our evolving climate network characteristics, which allows a functional discrimination between recently recognized different types of El Nino episodes. Our analysis provides deep insights into the Earth's climate system, particularly its global response to strong volcanic eruptions and large-scale impacts of different phases of the El Nino Southern Oscillation.
|
|
| 38. |
- Schleussner, C. -F., et al.
(författare)
-
Indications for a North Atlantic ocean circulation regime shift at the onset of the Little Ice Age
- 2015
-
Ingår i: Climate Dynamics. - : Springer Science and Business Media LLC. - 0930-7575 .- 1432-0894. ; 45:11-12, s. 3623-3633
-
Tidskriftsartikel (refereegranskat)abstract
- A prominent characteristic of the reconstructed Northern Hemisphere temperature signal over the last millennium is the transition from the Medieval Climate Anomaly to the Little Ice Age (LIA). Here we report indications for a non-linear regime shift in the North Atlantic ocean circulation at the onset of the LIA. Specifically, we apply a novel statistical test based on horizontal visibility graphs to two ocean sediment August sea-surface temperature records from the Norwegian Sea and the central subpolar basin and find robust indications of time-irreversibility in both records during the LIA onset. Despite a basin-wide cooling trend, we report an anomalous warming in the central subpolar basin during the LIA that is reproduced in ensemble simulations with the climate model of intermediate complexity CLIMBER-3 as a result of a non-linear regime shift in the subpolar North Atlantic ocean circulation. The identified volcanically triggered non-linear transition in the model simulations provides a plausible explanation for the signatures of time-irreversibility found in the ocean sediment records. Our findings indicate a potential multi-stability of the North Atlantic ocean circulation and its importance for regional climate change on centennial time scales.
|
|
| 39. |
- Turner, Stephen T., et al.
(författare)
-
Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide
- 2013
-
Ingår i: Hypertension. - 1524-4563. ; 62:2, s. 391-397
-
Tidskriftsartikel (refereegranskat)abstract
- To identify novel genes influencing blood pressure response to thiazide diuretic therapy for hypertension, we conducted genome-wide association meta-analyses of approximate to 1.1 million single-nucleotide polymorphisms in a combined sample of 424 European Americans with primary hypertension treated with hydrochlorothiazide from the Pharmacogenomic Evaluation of Antihypertensive Responses study (n=228) and the Genetic Epidemiology of Responses to Antihypertensive study (n=196). Polymorphisms associated with blood pressure response at P<10(-5) were tested for replication of the associations in independent samples of hydrochlorothiazide-treated European hypertensives. The rs16960228 polymorphism in protein kinase C, replicated for same-direction association with diastolic blood pressure response in the Nordic Diltiazem study (n=420) and the Genetics of Drug Responsiveness in Essential Hypertension study (n=206), and the combined 4-study meta-analysis P value achieved genome-wide significance (P=3.3x10(-8)). Systolic or diastolic blood pressure responses were consistently greater in carriers of the rs16960228 A allele than in GG homozygotes (>4/4 mm Hg) across study samples. The rs2273359 polymorphism in the GNAS-EDN3 region also replicated for same-direction association with systolic blood pressure response in the Nordic Diltiazem study, and the combined 3-study meta-analysis P value approached genome-wide significance (P=5.5x10(-8)). The findings document clinically important effects of genetic variation at novel loci on blood pressure response to a thiazide diuretic, which may be a basis for individualization of antihypertensive drug therapy and identification of new drug targets.
|
|
| 40. |
|
|
| 41. |
- Wynes, Seth, et al.
(författare)
-
Measuring what works : Quantifying greenhouse gas emission reductions of behavioural interventions to reduce driving, meat consumption, and household energy use
- 2018
-
Ingår i: Environmental Research Letters. - : IOP Publishing. - 1748-9326. ; 13:11
-
Forskningsöversikt (refereegranskat)abstract
- Interventions that promote pro-environmental behaviours are increasingly necessary in reducing use of high-emissions goods and services to meet international climate change targets. Here we assess the greenhouse gas emissions reductions associated with behavioural interventions in three high-emitting domains (personal vehicle use, meat consumption, and household energy use) based on an analysis of the peer-reviewed literature. We examined 40 studies from 1991-2018 involving 886 576 subjects. We found that some of the most robust interventions shown to reduce emissions were financial incentives for personal vehicles, defaults for reduced meat consumption, and feedback for home energy use. We estimate mean annual reductions of 571 kgCO2e per vehicle driver for reduced vehicle use, 51 kgCO2e per individual for reduced meat consumption, and 149 kgCO2e per household for reduced energy use. Despite substantial attention to behavioural interventions in the literature, we find that few studies are suitable for quantifying emissions reductions (N = 6 for diet, N = 5 for personal vehicles) and few (N = 3) are conducted outside OECD countries. Due to this imbalance in the literature, we focus our findings on western economies. We find substantial variation in the emission reductions achieved with different interventions within each domain; interventions in diet ranged from reductions of 231 kgCO2e to increases of 116 kgCO2e per person per year (both statistically significant). Further, emissions reductions are sensitive to external factors, such as the emissions intensity of the electrical grid, which may change over time. Key gaps in the literature include a lack of studies conducted using randomized controlled trials or follow-ups, and in high-impact areas for emissions reductions including air travel. We highlight promising areas of intervention, such as habit changes to promote mode shifts in personal transportation, which would benefit from an analysis of greenhouse gas emissions reductions in future research.
|
|
| 42. |
- Yovanovich, Carola A M, et al.
(författare)
-
The dual rod system of amphibians supports colour discrimination at the absolute visual threshold
- 2017
-
Ingår i: Philosophical Transactions of the Royal Society B: Biological Sciences. - : The Royal Society. - 0962-8436 .- 1471-2970. ; 372:1717
-
Tidskriftsartikel (refereegranskat)abstract
- The presence of two spectrally different kinds of rod photoreceptors in amphibians has been hypothesized to enable purely rod-based colour vision at very low light levels. The hypothesis has never been properly tested, so we performed three behavioural experiments at different light intensities with toads (Bufo) and frogs (Rana) to determine the thresholds for colour discrimination. The thresholds of toads were different in mate choice and prey-catching tasks, suggesting that the differential sensitivities of different spectral cone types as well as task-specific factors set limits for the use of colour in these behavioural contexts. In neither task was there any indication of rod-based colour discrimination. By contrast, frogs performing phototactic jumping were able to distinguish blue from green light down to the absolute visual threshold, where vision relies only on rod signals. The remarkable sensitivity of this mechanism comparing signals from the two spectrally different rod types approaches theoretical limits set by photon fluctuations and intrinsic noise. Together, the results indicate that different pathways are involved in processing colour cues depending on the ecological relevance of this information for each task.
|
|
