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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.

Gene-based genome-wide association study identified 19p13.3 for lean body mass