Whole-exome sequencing and genome-wide association studies identify novel sarcopenia risk genes in Han Chinese.

ABSTRACT: Sarcopenia is a complex polygenic disease, and its molecular mechanism is still unclear. Whole lean body mass (WLBM) is a heritable trait predicting sarcopenia. To identify genomic loci underlying, we performed a whole-exome sequencing (WES) of WLBM variation with high sequencing depth (more than 40*) in 101 Chinese subjects. We then replicated in the major findings in the large-scale UK Biobank (UKB) cohort (N = 217,822) for WLBM. The results of four single-nucleotide polymorphisms (SNPs) were significant both in the discovery stage and replication stage: SNP rs740681 (discovery p = 1.66 × 10^-6 , replication p = .05), rs2272303 (discovery p = 3.20 × 10^-4 , replication p = 3.10 × 10^-4 ), rs11170413 (discovery p = 3.99 × 10^-4 , replication p = 2.9

SUBMITTER: Ran S 

PROVIDER: S-EPMC7434604 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature