GWAS for sarcopenia related phenotype-univariate analysis and bivariate analy-sis / 中国免疫学杂志

ABSTRACT

Objective:To identify potentially pleiotropic genes for lean body mass ( LBM ) and age at menarche ( AAM).Methods:The discovery sample consisted of 1 692 unrelated female subjects of European ancestry.The replication sample consisted of 801 unrelated female subjects of Han Chinese ancestry.A total of 909,622 single nucleotide polymorphisms (SNPs) were genotyped in both samples with the Affymetrix genome-wide genotyping array SNP 6.0.Bivariate genome-wide association analyses were then performed to the appendicular LBM and AAM.Results: Two SNP rs1860547 and rs11030746 identified by the bivariate GWAS were significant at the genome-wide significance (GWS) level;their P-values were <0.05 after replications.In the upstream of rs1860547, two genes KCNA1 and KCNA5 were found to be important for both LBM and AAM.In the downstream of rs11030746, one gene KCNA4 was found.Univariate GWAS also identified both SNPs to be significant at the GWS level; their P-values were <0.05 after replications.In the upstream of rs1860547 , two genes KCNA1 and KCNA5 are found to be important for LBM.In the downstream of rs11030746 , one gene KCNA4 was found.Conclusion:KCNA1, KCNA4 and KCNA5 are likely to be pleiotropic genes closely related to both LBM and AAM in European females.