| 91. |
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| 92. |
- Andres-Martin, Miguel, et al.
(författare)
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Uncertainty in surface wind speed projections over the Iberian Peninsula: CMIP6 GCMs versus a WRF-RCM
- 2023
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Ingår i: Annals of the New York Academy of Sciences. - 0077-8923 .- 1749-6632. ; 1529:1, s. 101-108
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Tidskriftsartikel (refereegranskat)abstract
- This study assessed the projected near-surface wind speed (SWS) changes and variability over the Iberian Peninsula for the 21st century. Here, we compared Coupled Model Intercomparison Project Phase 6 global climate models (GCMs) with a higher spatial resolution regional climate model (RCM; ∼20km), known as WRF-CESM2, which was created by a dynamic downscaling of the Community Earth System Model version 2 (CESM2) using the Weather Research and Forecasting (WRF) model. Our analysis found that the GCMs tended to overestimate observed SWS for 1985–2014, while the higher spatial resolution of the WRF-CESM2 did not improve the accuracy and underestimated the SWS magnitude. GCMs project a decline of SWS under highshared socioeconomic pathways (SSPs) greenhouse concentrations, such as SSP370 and SSP585, while an interdecadal oscillation appears in SSP126 and SSP245 for the end of the century. The WRF-CESM2 under SSP585 predicts the opposite increasing SWS. Our results suggest that 21st-century projections of SWS are uncertain even for regionalized products and should be taken with caution.
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| 93. |
- Anney, R. J. L., et al.
(författare)
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Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
- 2017
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Ingår i: Molecular Autism. - : Springer Science and Business Media LLC. - 2040-2392. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- Background: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) < 1.15). Methods: We conducted a large-scale coordinated international collaboration to combine independent genotyping data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls). Results: We observe a GWS locus at 10q24.32 that overlaps several genes including PITX3, which encodes a transcription factor identified as playing a role in neuronal differentiation and CUEDC2 previously reported to be associated with social skills in an independent population cohort. We also observe overlap with regions previously implicated in schizophrenia which was further supported by a strong genetic correlation between these disorders (Rg = 0.23; P= 9 x10(-6)). We further combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12 novel GWS loci. These include loci previously implicated in ASD such as FOXP1 at 3p13, ATP2B2 at 3p25.3, and a 'neurodevelopmental hub' on chromosome 8p11.23. Conclusions: This study is an important step in the ongoing endeavour to identify the loci which underpin the common variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental- related genes such as EXT1, ASTN2, MACROD2, and HDAC4.
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| 94. |
- Archambault, Alexi N., et al.
(författare)
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Cumulative Burden of Colorectal Cancer Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer
- 2020
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Ingår i: Gastroenterology. - : Elsevier BV. - 0016-5085 .- 1528-0012. ; 158:5, s. 1274-1286.e12
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND & AIMS: Early-onset colorectal cancer (CRC, in persons younger than 50 years old) is increasing in incidence; yet, in the absence of a family history of CRC, this population lacks harmonized recommendations for prevention. We aimed to determine whether a polygenic risk score (PRS) developed from 95 CRC-associated common genetic risk variants was associated with risk for early-onset CRC.METHODS: We studied risk for CRC associated with a weighted PRS in 12,197 participants younger than 50 years old vs 95,865 participants 50 years or older. PRS was calculated based on single nucleotide polymorphisms associated with CRC in a large-scale genome-wide association study as of January 2019. Participants were pooled from 3 large consortia that provided clinical and genotyping data: the Colon Cancer Family Registry, the Colorectal Transdisciplinary Study, and the Genetics and Epidemiology of Colorectal Cancer Consortium and were all of genetically defined European descent. Findings were replicated in an independent cohort of 72,573 participants.RESULTS: Overall associations with CRC per standard deviation of PRS were significant for early-onset cancer, and were stronger compared with late-onset cancer (P for interaction = .01); when we compared the highest PRS quartile with the lowest, risk increased 3.7-fold for early-onset CRC (95% CI 3.28-4.24) vs 2.9-fold for late-onset CRC (95% CI 2.80-3.04). This association was strongest for participants without a first-degree family history of CRC (P for interaction = 5.61 x 10(-5)). When we compared the highest with the lowest quartiles in this group, risk increased 4.3-fold for early-onset CRC (95% CI 3.61-5.01) vs 2.9-fold for late-onset CRC (95% CI 2.70-3.00). Sensitivity analyses were consistent with these findings.CONCLUSIONS: In an analysis of associations with CRC per standard deviation of PRS, we found the cumulative burden of CRC-associated common genetic variants to associate with early-onset cancer, and to be more strongly associated with early-onset than late-onset cancer, particularly in the absence of CRC family history. Analyses of PRS, along with environmental and lifestyle risk factors, might identify younger individuals who would benefit from preventive measures.
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| 95. |
- Arun, K. G., et al.
(författare)
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New horizons for fundamental physics with LISA
- 2022
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Ingår i: Living Reviews in Relativity. - : Springer Science and Business Media LLC. - 1433-8351 .- 2367-3613. ; 25:1
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Forskningsöversikt (refereegranskat)abstract
- The Laser Interferometer Space Antenna (LISA) has the potential to reveal wonders about the fundamental theory of nature at play in the extreme gravity regime, where the gravitational interaction is both strong and dynamical. In this white paper, the Fundamental Physics Working Group of the LISA Consortium summarizes the current topics in fundamental physics where LISA observations of gravitational waves can be expected to provide key input. We provide the briefest of reviews to then delineate avenues for future research directions and to discuss connections between this working group, other working groups and the consortium work package teams. These connections must be developed for LISA to live up to its science potential in these areas.
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| 96. |
- Atikuzzaman, Mohammad, et al.
(författare)
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Conserved gene expression in sperm reservoirs between birds and mammals in response to mating.
- 2017
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Ingår i: BMC Genomics. - : BioMed Central. - 1471-2164. ; 18:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Spermatozoa are stored in the oviductal functional sperm reservoir in animals with internal fertilization, including zoologically distant classes such as pigs or poultry. They are held fertile in the reservoir for times ranging from a couple of days (in pigs), to several weeks (in chickens), before they are gradually released to fertilize the newly ovulated eggs. It is currently unknown whether females from these species share conserved mechanisms to tolerate such a lengthy presence of immunologically-foreign spermatozoa. Therefore, global gene expression was assessed using cDNA microarrays on tissue collected from the avian utero-vaginal junction (UVJ), and the porcine utero-tubal junction (UTJ) to determine expression changes after mating (entire semen deposition) or in vivo cloacal/cervical infusion of sperm-free seminal fluid (SF)/seminal plasma (SP).RESULTS: In chickens, mating changed the expression of 303 genes and SF-infusion changed the expression of 931 genes, as compared to controls, with 68 genes being common to both treatments. In pigs, mating or SP-infusion changed the expressions of 1,722 and 1,148 genes, respectively, as compared to controls, while 592 genes were common to both treatments. The differentially expressed genes were significantly enriched for GO categories related to immune system functions (35.72-fold enrichment). The top 200 differentially expressed genes of each treatment in each animal class were analysed for gene ontology. In both pig and chicken, an excess of genes affecting local immune defence were activated, though frequently these were down-regulated. Similar genes were found in both the chicken and pig, either involved in pH-regulation (SLC16A2, SLC4A9, SLC13A1, SLC35F1, ATP8B3, ATP13A3) or immune-modulation (IFIT5, IFI16, MMP27, ADAMTS3, MMP3, MMP12).CONCLUSION: Despite being phylogenetically distant, chicken and pig appear to share some gene functions for the preservation of viable spermatozoa in the female reservoirs.
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| 97. |
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| 98. |
- Axelsson Fisk, Sten, et al.
(författare)
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Understanding the complexity of socioeconomic disparities in smoking prevalence in sweden : A cross-sectional study applying intersectionality theory
- 2021
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Ingår i: BMJ Open. - : BMJ. - 2044-6055. ; 11:2
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Tidskriftsartikel (refereegranskat)abstract
- Objectives Socioeconomic disparities in smoking prevalence remain a challenge to public health. The objective of this study was to present a simple methodology that displays intersectional patterns of smoking and quantify heterogeneities within groups to avoid inappropriate and potentially stigmatising conclusions exclusively based on group averages. Setting This is a cross-sectional observational study based on data from the National Health Surveys for Sweden (2004-2016 and 2018) including 136 301 individuals. We excluded people under 30 years of age, or missing information on education, household composition or smoking habits. The final sample consisted on 110 044 individuals or 80.7% of the original sample. Outcome Applying intersectional analysis of individual heterogeneity and discriminatory accuracy (AIHDA), we investigated the risk of self-reported smoking across 72 intersectional strata defined by age, gender, educational achievement, migration status and household composition. Results The distribution of smoking habit risk in the population was very heterogeneous. For instance, immigrant men aged 30-44 with low educational achievement that lived alone had a prevalence of smoking of 54% (95% CI 44% to 64%), around nine times higher than native women aged 65-84 with high educational achievement and living with other(s) that had a prevalence of 6% (95% CI 5% to 7%). The discriminatory accuracy of the information was moderate. Conclusion A more detailed, intersectional mapping of the socioeconomic and demographic disparities of smoking can assist in public health management aiming to eliminate this unhealthy habit from the community. Intersectionality theory together with AIHDA provides information that can guide resource allocation according to the concept proportionate universalism.
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| 99. |
- Azorin-Molina, Cesar, et al.
(författare)
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Biases in wind speed measurements due to anemometer changes
- 2023
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Ingår i: Atmospheric Research. - 0169-8095. ; 289
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Tidskriftsartikel (refereegranskat)abstract
- This research presents a case study of the biases and discontinuities that were introduced in observed long-term mean wind-speed and gust data-series due to anemometer changes in a meteorological station in northern Spain, operated by the Spanish State Meteorological Agency: San Sebastian-Igueldo. Field and wind-tunnel experiments with predefined conditions have been presented in the literature, however this research uses a real case study to assess the impact of anemometer changes on wind speed measurements due to three factors being: (i) the 3-cup anemometer model (SEAC vs. THIES companies); (ii) sensor height (∼19.95 m vs. ∼20.45 m) and (iii) sensor age (20-years old vs. new). Our results show (a) substantial biases in the measured wind speed and daily peak wind gusts, with the new THIES anemometer reporting stronger surface winds than the old SEAC anemometer; (b) opposing biases under weak (negative) and moderate-strong (positive) winds; and (c) significant breakpoints in the long-term wind data-series, which highlight the importance of data homogenization. National Weather Services and climate assessment groups will benefit from these findings since errors in wind speed and gust measurements can be minimized by implementing systematic observation protocols. Robust anemometer observations provide a basis for accurate quantification of the magnitude of changes and the variability of surface winds.
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