Nature CommunicationsGenetic & Genomic MedicinePeer-reviewed journal article
Rare genetic variants impact muscle strength
Yunfeng HuangiD, Dóra Bodnár, Chia‐Yen CheniD, Gabriela Sánchez-AndradeiD, Mark Sanderson, Biogen Biobank Team, Christopher D. WhelaniD, Paola G. BronsoniD, David SextoniD, Sally John, Eric Marshall, Mehool Patel, Saranya Duraisamy, Timothy Swan, Denis A. BairdiD, Susan Eaton, Jake Gagnon, Feng GaoiD, Cynthia Sophia Gubbels, Varant A. KupelianiD, Kejie LiiD, Dawei LiuiD, Stephanie J. LoomisiD, Helen McLaughlin, Adele A. Mitchell, , Heiko RunziD
Abstract
Muscle strength is highly heritable and predictive for multiple adverse health outcomes including mortality. Here, we present a rare protein-coding variant association study in 340,319 individuals for hand grip strength, a proxy measure of muscle strength. We identify six significant genes (KDM5B, OBSCN, GIGYF1, TTN, RB1CC1, EIF3J), propose shared mechanisms between brain and muscle function and demonstrate additive effects between rare and common genetic variation on muscle strength.
- organism: human
- assay: GWAS summary statistics
- research focus: GWAS / association mapping
- approach: statistical model
- Citations
- 26
- FWCI
- 4.14
- Field percentile
- top 4%
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