Enhancing portability of trans-ancestral polygenic risk scores through tissue-specific functional genomic data integration DOI Creative Commons
Bradley Crone, Alan P. Boyle

PLoS Genetics, Journal Year: 2024, Volume and Issue: 20(8), P. e1011356 - e1011356

Published: Aug. 7, 2024

Portability of trans-ancestral polygenic risk scores is often confounded by differences in linkage disequilibrium and genetic architecture between ancestries. Recent literature has shown that prioritizing GWAS SNPs with functional genomic evidence over strong association signals can improve model portability. We leveraged three RegulomeDB-derived regulatory annotations—SURF, TURF, TLand—to construct models across a set quantitative binary traits highlighting mutations tagged trait-associated tissue annotations. Tissue-specific prioritization TURF TLand provide significant improvement accuracy standard score (PRS) all traits. developed the Trans-ancestral Iterative Tissue Refinement (TITR) algorithm to PRS prioritize multiple trait-implicated tissues. TITR-constructed show increased predictive single prioritization. This indicates our TITR approach captures more comprehensive view systems implicated tissues contribute variance trait expression.

Language: Английский

Dietary patterns and the effect of long-term PM2.5 exposure on metabolic syndrome among Chinese adults: a cross-sectional study DOI Creative Commons

Huizhen Mao,

Wen Wang, Liyong Lu

et al.

Environmental Research Letters, Journal Year: 2024, Volume and Issue: 19(3), P. 034003 - 034003

Published: Feb. 15, 2024

Abstract Limited evidence exists regarding the causal effects of air pollution and metabolic syndrome (MetS), as well potential moderating effect adherence to healthy dietary patterns. We recruited participants with accessible clinical characteristics, patterns, blood biomarkers data from 2009 China Health Nutrition Survey. Multi-biomarkers combined physical examinations were used determine status MetS. The fine particulate matter (PM 2.5 ) concentration was calculated by near-real-time historical at resolution 1 km. control function (CF) probit model (CF-Probit) long-term PM exposure on MetS risk, wind speed serving instrument. assessed patterns each participant using balance index (DBI). modification analyses conducted investigate role study included 4,277 adult participated a mean age 50.18 years an incidence 22.38% (957/4277 cases). score for DBI 40.23. level 65.79 μ g m −3 . CF-Probit marginal analysis showed significant chronic incidence, 0.013 (95% confidence interval (CI): 0.003–0.022), suggesting that average partial risk in adults is 1.3 percentage points. indicated higher male compared female (4.22 pencetage points, 95% CI: 2.12 6.35 points) greater associated unhealthy (1 point, 0.17 1.86 points). This found increases MetS, while pattern can modulate this effect. findings provide scientific basis health protection guidelines recommendations populations.

Language: Английский

Citations

0
Large-scale transcriptomic and genomic analyses reveal a novel functional gene SERPINB6 for chicken carcass traits DOI Creative Commons
Di Zhao, Ranran Liu, Xiaodong Tan

et al.

Journal of Animal Science and Biotechnology/Journal of animal science and biotechnology, Journal Year: 2024, Volume and Issue: 15(1)

Published: May 11, 2024

Abstract Background Carcass traits are crucial indicators of meat production efficiency. However, the molecular regulatory mechanisms associated with these remain unclear. Results In this study, we conducted comprehensive transcriptomic and genomic analyses on 399 Tiannong partridge chickens to identify key genes variants carcass elucidate underlying mechanisms. Based association elastic net (EN) model, identified 12 candidate ( AMY1A , AP3B2 CEBPG EEF2 EIF4EBP1 FGFR1 FOXD3 GOLM1 LOC107052698 PABPC1 SERPINB6 TBC1D16 ) for 4 carcass-related traits, namely live weight, dressed eviscerated breast muscle weight. was as only overlapping gene by 3 analyses, EN model analysis, weighted co-expression network analysis differential expression analysis. Cell-level experiments confirmed that promotes proliferation chicken DF1 cells primary myoblasts. Further genome-wide study indicated rs317934171 is critical site enhances expression. Furthermore, a dual-luciferase reporter assay proved gga-miR-1615 targets 3′UTR . Conclusions Collectively, our findings reveal serves novel promoting fibroblast myoblast proliferation. Additionally, downstream variant regulates These results new target marker traits.

Language: Английский

Citations

0
Dried fruit intake can lower the risk of ulcerative colitis: evidence from a Mendelian randomization study. DOI
Zhijun Bu,

Xuehui Wang,

Xuefeng Wang

et al.

PubMed, Journal Year: 2024, Volume and Issue: 33(2), P. 237 - 246

Published: June 1, 2024

This study aims to examine the causal relationship between dietary factors and ulcerative colitis (UC).

Language: Английский

Citations

0
A Comprehensive Analysis of Conventional Acupuncture and Pharmacological Approaches for Cardiac Arrhythmias: An Umbrella Review DOI Open Access

Tamam Mohamad,

Mahima Khatri,

Satesh Kumar

et al.

Journal of Innovations in Cardiac Rhythm Management, Journal Year: 2024, Volume and Issue: 15(6), P. 5876 - 5888

Published: June 1, 2024

With a global incidence of approximately 3.4% and an annual mortality rate 3.7 million, cardiac arrhythmias (CAs) are pressing health issue. Their increasing prevalence, especially among older people, is intensifying the challenge for care systems worldwide. This study aims to compare safety effectiveness acupuncture pharmacological treatments CAs, addressing critical gaps in understanding optimal therapeutic approaches. A search PubMed, EMBASE, Cochrane database systematic reviews was performed identify data compiled through September 2023 this umbrella review. Randomized controlled trials (RCTs) as foundation meta-analyses peer-reviewed were primary focus literature search. The Grading Recommendations Assessment, Development, Evaluation method used assess overall certainty evidence, whereas AMSTAR 2 Collaboration tool evaluate quality included reviews. Following comprehensive review, three analyses 27 RCTs integrated. Acupuncture led slightly greater reduction recurrence paroxysmal supraventricular tachycardia (SVT) compared standard pharmaceutical therapy (risk ratio [RR], 1.06; 95% confidence interval [CI], 0.88-1.27; I

Language: Английский

Citations

0
Enhancing portability of trans-ancestral polygenic risk scores through tissue-specific functional genomic data integration DOI Creative Commons
Bradley Crone, Alan P. Boyle

PLoS Genetics, Journal Year: 2024, Volume and Issue: 20(8), P. e1011356 - e1011356

Published: Aug. 7, 2024

Portability of trans-ancestral polygenic risk scores is often confounded by differences in linkage disequilibrium and genetic architecture between ancestries. Recent literature has shown that prioritizing GWAS SNPs with functional genomic evidence over strong association signals can improve model portability. We leveraged three RegulomeDB-derived regulatory annotations—SURF, TURF, TLand—to construct models across a set quantitative binary traits highlighting mutations tagged trait-associated tissue annotations. Tissue-specific prioritization TURF TLand provide significant improvement accuracy standard score (PRS) all traits. developed the Trans-ancestral Iterative Tissue Refinement (TITR) algorithm to PRS prioritize multiple trait-implicated tissues. TITR-constructed show increased predictive single prioritization. This indicates our TITR approach captures more comprehensive view systems implicated tissues contribute variance trait expression.

Language: Английский

Citations

0