| Title: | Rare genetic variants impact muscle strength |
| Journal: | Nature Communications |
| Published: | 10 Jun 2023 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/37301943/ |
| DOI: | https://doi.org/10.1038/s41467-023-39247-1 |
| URL: | https://www.nature.com/articles/s41467-023-39247-1.pdf |
Publication 7800
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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 show that the exome-wide burden of rare protein-truncating and damaging missense variants is associated with a reduction in hand grip strength. We identify six significant hand grip strength genes, KDM5B, OBSCN, GIGYF1, TTN, RB1CC1, and EIF3J. In the example of the titin (TTN) locus we demonstrate a convergence of rare with common variant association signals and uncover genetic relationships between reduced hand grip strength and disease. Finally, we identify shared mechanisms between brain and muscle function and uncover additive effects between rare and common genetic variation on muscle strength.11 Authors
- Yunfeng Huang
- Dora Bodnar
- Chia-Yen Chen
- Gabriela Sanchez-Andrade
- Mark Sanderson
- Jun Shi
- Katherine G. Meilleur
- Matthew E. Hurles
- Sebastian S. Gerety
- Ellen A. Tsai
- Heiko Runz
1 Application
| Application ID | Title |
|---|---|
| 26041 | Large-Scale Sequencing in the UK Biobank to Facilitate Gene Discovery, Genome Sciences, and Precision Medicine |
Enabling scientific discoveries that improve human health