Open AccessThree pleiotropic loci associated with bone mineral density and lean body mass
Author(s) -
Yuxue Zhang,
Shanshan Zhang,
Shu Ran,
Li Yu,
Hong Zhang,
Xiaolin Yang,
Rong Hai,
Hui Shen,
Qing Tian,
HongWen Deng,
Lei Zhang,
YuFang Pei
Publication year - 2020
Publication title -
molecular genetics and genomics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.921
H-Index - 120
eISSN - 1617-4615
pISSN - 1617-4623
DOI - 10.1007/s00438-020-01724-3
Subject(s) - bone mineral , biology , lean body mass , genome wide association study , replication (statistics) , bone density , single nucleotide polymorphism , genetics , computational biology , genotype , endocrinology , gene , osteoporosis , body weight , virology
Both bone mineral density (BMD) and lean body mass (LBM) are important physiological measures with strong genetic determination. Besides, BMD and LBM might have common genetic factors. Aiming to identify pleiotropic genomic loci underlying BMD and LBM, we performed bivariate genome-wide association study meta-analyses of femoral neck bone mineral density and LBM at arms and legs, and replicated in the large-scale UK Biobank cohort sample. Combining the results from discovery meta-analysis and replication sample, we identified three genomic loci at the genome-wide significance level (p < 5.0 × 10 -8 ): 2p23.2 (lead SNP rs4477866, discovery p = 3.47 × 10 -8 , replication p = 1.03 × 10 -4 ), 16q12.2 (rs1421085, discovery p = 2.04 × 10 -9 , replication p = 6.47 × 10 -14 ) and 18q21.32 (rs11152213, discovery p = 3.47 × 10 -8 , replication p = 6.69 × 10 -6 ). Our findings not only provide useful insights into lean mass and bone mass development, but also enhance our understanding of the potential genetic correlation between BMD and LBM.