rs11130441 - CACNA2D3

Magnitude 2.0 · 1 study on file

Reported associations

• Unveiling genetic variants for age-related sarcopenia by conducting a genome-wide association study on Korean cohorts - Scientific reports (2022) · Jin H, Yoo HJ, Kim YA, Lee JH, Lee Y, Kwon SH, Seo YJ, Lee SH, Koh JM, Ji Y, Do AR, Won S, Seo JH · PubMed 35241739

  ABSTRACT: Sarcopenia is an age-related disorder characterised by a progressive decrease in skeletal muscle mass. As the genetic biomarkers for sarcopenia are not yet well characterised, this study aimed to investigate the genetic variations related to sarcopenia in a relatively aged cohort, using genome-wide association study (GWAS) meta-analyses of lean body mass (LBM) in 6961 subjects. Two Korean cohorts were analysed, and subgroup GWAS was conducted for appendicular skeletal muscle mass (ASM) and skeletal muscle index. The effects of significant single nucleotide polymorphisms (SNPs) on gene expression were also investigated using multiple expression quantitative trait loci datasets, differentially expressed gene analysis, and gene ontology analyses. Novel genetic biomarkers were identi

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