Results 1 to 10 of about 4,523 (159)

Large-scale transcriptome-wide association study identifies new prostate cancer risk regions [PDF]

Nature Communications, 2018
Genome-wide association studies (GWAS) have identified hundreds of genomic risk regions for prostate cancer. Here, the authors perform a transcriptome wide association study (TWAS) by incorporating prostate cancer GWAS with gene expression data to ...
Nicholas Mancuso, Simon Gayther, Alexander Gusev, Wei Zheng, Kathryn L. Penney, Zsofia Kote-Jarai, Rosalind Eeles, Matthew Freedman, Christopher Haiman, Bogdan Pasaniuc, The PRACTICAL consortium   +10 more
doaj   +12 more sources

A large-scale transcriptome-wide association study (TWAS) of 10 blood cell phenotypes reveals complexities of TWAS fine-mapping. [PDF]

Genet Epidemiol, 2022
Hematological measures are important intermediate clinical phenotypes for many acute and chronic diseases and are highly heritable. Although genome-wide association studies (GWAS) have identified thousands of loci containing trait-associated variants ...
Tapia AL, Rowland BT, Rosen JD, Preuss M, Young K, Graff M, Choquet H, Couper DJ, Buyske S, Bien SA, Jorgenson E, Kooperberg C, Loos RJF, Morrison AC, North KE, Yu B, Reiner AP, Li Y, Raffield LM.   +18 more
europepmc   +6 more sources

MAAT: a new nonparametric Bayesian framework for incorporating multiple functional annotations in transcriptome-wide association studies [PDF]

Genome Biology
Transcriptome-wide association study (TWAS) has emerged as a powerful tool for translating the myriad variations identified by genome-wide association studies (GWAS) into regulated genes in the post-GWAS era.
Han Wang, Xiang Li, Teng Li, Zhe Li, Pak Chung Sham, Yan Dora Zhang   +5 more
doaj   +2 more sources

Genomic Structural Equation Modeling Reveals Cardiovascular-Kidney-Metabolic Syndrome Genetic Architecture. [PDF]

J Diabetes
Flowchart illustration. BMI: Body mass index; FG: Fasting glucose; vitamin D: Serum 25‐Hydroxyvitamin D levels; CKD: Chronic kidney disease; CAD: Coronary artery disease; T2D: Type 2 diabetes. ABSTRACT Background The genetic basis of cardiovascular‐kidney‐metabolic syndrome (CKMs) involves complex pleiotropy, necessitating analytical approaches capable
Lu C, Li L, Chen J, Chang R, Dong H.
europepmc   +2 more sources

Transcriptome-wide association study of cardiovascular outcomes in chronic kidney disease: The chronic renal insufficiency cohort [PDF]

HGG Advances
Summary: Transcriptome-wide association studies (TWASs) are powerful for identifying gene-trait associations by integrating gene expression and genome-wide association data, but findings may be impacted by the choice of gene expression reference.
Bridget M. Lin, Jia Wen, Andrea R.V.R. Horimoto, Lingbo Zhou, Shuai Huang, Mirela Dobre, Alan S. Go, Yun Li, Nora Franceschini, Amanda H. Anderson, Lawrence J. Appel, Jing Chen, Debbie L. Cohen, Laura M. Dember, Alan S. Go, James P. Lash, Mahboob Rahman, Panduranga S. Rao, Vallabh O. Shah, Mark L. Unruh   +19 more
doaj   +2 more sources

Methods for Prioritizing Causal Genes in Molecular Studies of Human Disease: The State of the Art. [PDF]

Genet Epidemiol
ABSTRACT In the last decade, genome‐wide association studies (GWAS) have identified tens of thousands of common variants associated with a wide array of complex traits and diseases. Integration of GWAS with molecular data has informed the development of statistical tools for causal gene discovery.
Patasova K, Sedaghati-Khayat B, Knevel R, Cordell HJ, Pratt AG.   +4 more
europepmc   +2 more sources

Identifying Susceptibility Genes and Shared Genetic Architecture for Longevity and Muscle Weakness. [PDF]

J Cachexia Sarcopenia Muscle
ABSTRACT Background Longevity and muscle strength are heritable traits, and age‐related muscle weakness is a major contributor to disability in older adults. However, the susceptibility genes and shared genetic mechanisms underlying lifespan and sarcopenia remain unclear.
Lin Y, Zhang Y, Lin S, Wang S, Que Z, Zhang Y, She J, Zhao R, Chen J, Qiu A, Wu S, Yang R, Zhang L, Yang Q.   +13 more
europepmc   +2 more sources

Neuroimaging PheWAS and molecular phenotyping implicate PSMC3 in Alzheimer's disease. [PDF]

Alzheimers Dement
Abstract INTRODUCTION Neuroimaging genetics has advanced our understanding of Alzheimer's disease (AD); however, frameworks using functional genomics are needed to elucidate mechanisms connecting loci to neurological outcomes. To address this need, we explored relationships between AD‐associated variants and disease via their impact on gene expression ...
Bledsoe X, Wang TC, Wu Y, Archer D, Chen HH, Naj AC, Bush WS, Hohman TJ, Dumitrescu L, Below JE, Gamazon ER.   +10 more
europepmc   +2 more sources

Genomic Structural Equation Modeling Combined With Post-GWAS Analysis Identifies Two Risk Gene Loci and Functionally Sensitive Genes Associated With Cardiac Conduction Block. [PDF]

Genet Res (Camb)
Background Cardiac conduction disorders (CCDs) represent a broad spectrum of severe cardiovascular conditions associated with syncope and sudden cardiac death. Therefore, identification of reliable biomarkers is necessary to significantly improve the diagnostic accuracy and therapeutic outcomes of CCDs. This study analyzed GWAS summary datasets using a
Wang T, Miao X, Xia Y.
europepmc   +2 more sources

Meta-GWAS of Pig Semen Quality Traits Reveals Conserved Genes Regulating Mammalian Fertility. [PDF]

Adv Sci (Weinh)
This study incorporated 14 210 individuals to perform a GWAS meta‐analysis of six semen quality traits. The GWAS meta‐analysis identifies 234 GWAS loci associated with semen quality traits. The incorporation with a functional genomics resource explains potential genetic regulation of ∼40% GWAS signals underlying semen quality traits.
Lin Q, Cai X, Zhong Z, Li T, Chen X, Ayalew W, Xu Z, Wei C, Zhang X, Cheng H, Zhang Z, Li X, Tang Y, Chen S, Zhou J, Si J, Wu X, Ning C, Wang Q, Pan Y, Gao Y, Li J, Yu Y, Zhang Z, Zhao Y, Fang L, Zhang Z.   +26 more
europepmc   +2 more sources