Identification of pleiotropic loci underlying hip bone mineral density and trunk lean mass.

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?-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.

SUBMITTER: Feng GJ 

PROVIDER: S-EPMC7880826 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature