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Identification of pleiotropic loci underlying hip bone mineral density and trunk lean mass.
Journal of Human Genetics ( IF 2.6 ) Pub Date : 2020-09-14 , DOI: 10.1038/s10038-020-00835-4
Gui-Juan Feng 1, 2 , Xin-Tong Wei 1, 2 , Hong Zhang 2, 3 , Xiao-Lin Yang 2, 3 , Hui Shen 4 , Qing Tian 4 , Hong-Wen Deng 4 , Lei Zhang 2, 3 , Yu-Fang Pei 1, 2
Affiliation  

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.



中文翻译:


髋骨矿物质密度和躯干瘦肉质量背后的多效性基因座的鉴定。



骨矿物质密度(BMD)和去脂体重(LBM)不仅各自具有相当大的遗传力,而且还具有遗传相关性。然而,这两种性状共有的共同遗传决定因素在很大程度上尚不清楚。在本研究中,我们对来自 6 个样本的 11,335 名受试者的髋部 BMD 和躯干瘦体重 (TLM) 进行了双变量全基因组关联研究 (GWAS) 荟萃分析,并在 215,234 个英国生物库中对估计的脚跟 BMD 和 TLM 进行了复制(英国央行)参与者。我们在发现 GWAS 荟萃分析中确定了 2 个几乎达到全基因组显着性(GWS, p < 5.0 × 10 -8 )水平并且在 UKB 样本中成功复制的基因座:11p15.2(先导 SNP rs12800228,发现p = 2.88 × 10 -7 ,复制p = 1.95 × 10 -4 )和18q21.32(rs489693,发现p = 1.67 × 10 -7 ,复制p = 1.17 × 10 -3 )。上述2个多效性位点可能对髋部BMD和TLM发育发挥多效性作用。因此,我们的研究结果提供了有用的见解,进一步增强了我们对 BMD 和 LBM 之间遗传相互作用的理解。

更新日期:2020-09-15
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