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Article

Skeletal muscle eQTL meta-analysis implicates genes in the genetic architecture of muscular and cardiometabolic traits.

American journal of human genetics - 6 Nov 2025

Wilson Emma P, Broadaway K Alaine, Parsons Victoria A, Vadlamudi Swarooparani, Narisu Narisu, Brotman Sarah M, Currin Kevin W, Stringham Heather M, Erdos Michael R, Welch Ryan, Holtzman Jeffrey K, Lakka Timo A, Laakso Markku, Tuomilehto Jaakko, Boehnke Michael, Koistinen Heikki A, Collins Francis S, Parker Stephen C J, Scott Laura J, Mohlke Karen L

Abstract excerpt

Identifying genetic variants that regulate gene expression can help uncover mechanisms underlying complex traits. We performed a meta-analysis of skeletal muscle expression quantitative trait locus (eQTL) using data from 1,002 individuals from two studies. A stepwise analysis identified 18,818 conditionally distinct signals for 12,283 genes, and 35% of these genes contained two or more signals. Colocalization of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40992379
DOI: 10.1016/j.ajhg.2025.09.003
PMCID: PMC12614742

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