| Title: | The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study |
| Journal: | Communications Biology |
| Published: | 23 Oct 2020 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/33097823/ |
| DOI: | https://doi.org/10.1038/s42003-020-01334-0 |
| URL: | https://www.nature.com/articles/s42003-020-01334-0.pdf |
| Citations: | 118 (105 in last 2 years) as of 8 Aug 2024 |
Publication 5852
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Abstract
Appendicular lean mass (ALM) is a heritable trait associated with loss of lean muscle mass and strength, or sarcopenia, but its genetic determinants are largely unknown. Here we conducted a genome-wide association study (GWAS) with 450,243 UK Biobank participants to uncover its genetic architecture. A total of 1059 conditionally independent variants from 799 loci were identified at the genome-wide significance level (p < 5 × 10−9), all of which were also significant at p < 5 × 10-5 in both sexes. These variants explained ~15.5% of the phenotypic variance, accounting for more than one quarter of the total ~50% GWAS-attributable heritability. There was no difference in genetic effect between sexes or among different age strata. Heritability was enriched in certain functional categories, such as conserved and coding regions, and in tissues related to the musculoskeletal system. Polygenic risk score prediction well distinguished participants with high and low ALM. The findings are important not only for lean mass but also for other complex diseases, such as type 2 diabetes, as ALM is shown to be a protective factor for type 2 diabetes.</p>
7 Authors
- Yu-Fang Pei
- Yao-Zhong Liu
- Xiao-Lin Yang
- Hong Zhang
- Gui-Juan Feng
- Xin-Tong Wei
- Lei Zhang
Enabling scientific discoveries that improve human health