摘要：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(-5), 1.65 × 10(-4) and 1.10 × 10(-4); replication p = 2.21 × 10(-3), 1.84 × 10(-3) and 6.95 × 10(-3); combined p = 2.26 × 10(-6), 4.86 × 10(-6) and 1.15 × 10(-5), 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.
