Dataset Information

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 = 2.90 × 10-4 ), and rs2272302 (discovery p = 9.13 × 10-4 , replication p = 3.10 × 10-4 ). We combined p values of the significant SNPs. Functional annotations highlighted two candidate genes, including FZR1 and SOAT2, that may exert pleiotropic effects to the development of body mass. Our findings provide useful insights that further enhance our understanding of genetic interplay in sarcopenia.

SUBMITTER: Ran S

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

REPOSITORIES: biostudies-literature

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

Ran Shu S He Xiao X Jiang Zi-Xuan ZX Liu Yu Y Zhang Yu-Xue YX Zhang Lei L Gu Gui-Shan GS Pei Yufang Y Liu Bao-Lin BL Tian Qing Q Zhang Yong-Hong YH Wang Jing-Yu JY Deng Hong-Wen HW

Molecular genetics & genomic medicine 20200601 8

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 ...[more]

PMID: 32478482

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Dataset Information

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

Publications

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

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