Center of System Biomedical Sciences, University of Shanghai for Science and Technology, Shanghai, PR China.
Center for Genetic Epidemiology and Genomics, School of Public Health, Soochow University, Jiangsu, PR China.
Sci Rep. 2017 Mar 21;7:45025. doi: 10.1038/srep45025.
Lean body mass (LBM) is a complex trait for human health. To identify genomic loci underlying LBM, we performed a gene-based genome-wide association study of lean mass index (LMI) in 1000 unrelated Caucasian subjects, and replicated in 2283 unrelated Caucasians subjects. Gene-based association analyses highlighted the significant associations of three genes UQCR, TCF3 and MBD3 in one single locus 19p13.3 (discovery p = 6.10 × 10, 1.65 × 10 and 1.10 × 10; replication p = 2.21 × 10, 1.84 × 10 and 6.95 × 10; combined p = 2.26 × 10, 4.86 × 10 and 1.15 × 10, respectively). These results, together with the known functional relevance of the three genes to LMI, suggested that the 19p13.3 region containing UQCR, TCF3 and MBD3 genes was a novel locus underlying lean mass variation.
瘦体重（LBM）是影响人类健康的复杂特征。为了鉴定与 LBM 相关的基因座，我们对 1000 名无亲缘关系的白种人进行了基于基因的瘦体重指数（LMI）全基因组关联研究，并在 2283 名无亲缘关系的白种人中进行了验证。基于基因的关联分析突出了三个基因 UQCR、TCF3 和 MBD3 在一个单一位点 19p13.3 上的显著关联。在发现阶段，该基因座的 p 值分别为 6.10×10、1.65×10 和 1.10×10；在复制阶段，p 值分别为 2.21×10、1.84×10 和 6.95×10；在合并阶段，p 值分别为 2.26×10、4.86×10 和 1.15×10。这些结果，加上这三个基因与 LMI 的已知功能相关性，表明包含 UQCR、TCF3 和 MBD3 基因的 19p13.3 区域是一个新的瘦体重变异的基因座。
