| Title: | Identification of pleiotropic loci underlying hip bone mineral density and trunk lean mass |
| Journal: | Journal of Human Genetics |
| Published: | 14 Sep 2020 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/32929176/ |
| DOI: | https://doi.org/10.1038/s10038-020-00835-4 |
| URL: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7880826 |
Publication 5173
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Abstract
Bone mineral density (BMD) and lean body mass (LBM) not only have a considerable heritability each, but also are genetically correlated. However, common genetic determinants shared by both traits are largely unknown. In the present study, we performed a bivariate genome-wide association study (GWAS) meta-analysis of hip BMD and trunk lean mass (TLM) in 11,335 subjects from 6 samples, and performed replication in estimated heel BMD and TLM in 215,234 UK Biobank (UKB) participants. We identified 2 loci that nearly attained the genome-wide significance (GWS, p < 5.0 × 10−8) level in the discovery GWAS meta-analysis and that were successfully replicated in the UKB sample: 11p15.2 (lead SNP rs12800228, discovery p = 2.88 × 10−7, replication p = 1.95 × 10−4) and 18q21.32 (rs489693, discovery p = 1.67 × 10−7, replication p = 1.17 × 10−3). The above 2 pleiotropic loci may play a pleiotropic role for hip BMD and TLM development. So our findings provide useful insights that further enhance our understanding of genetic interplay between BMD and LBM.</p>
9 Authors
- Gui-Juan Feng
- Xin-Tong Wei
- Hong Zhang
- Xiao-Lin Yang
- Hui Shen
- Qing Tian
- Hong-Wen Deng
- Lei Zhang
- Yu-Fang Pei
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