biostudies-literatureUnknown24(2)Korostishevsky MNational Institute for Health Research (NIHR)Wellcome TrustThe contribution of specific molecular-genetic factors to muscle mass variation and sarcopenia remains largely unknown. To identify endogenous molecules and specific genetic factors associated with appendicular lean mass (APLM) in the general population, cross-sectional data from the TwinsUK Adult Twin Registry were used. Non-targeted mass spec-based metabolomic profiling was performed on plasma of 3953 females (mostly dizygotic and monozygotic twins). APLM was measured using dual-energy X-ray absorptiometry (DXA) and genotyping was genome-wide (GWAS). Specific metabolites were used as intermediate phenotypes in the identification of single-nucleotide polymorphisms associated with APLM using GWAS. In all, 162 metabolites were found significantly correlated with APLM, and explained 17.4% ofEuropean journal of human genetics : EJHG277-83https://www.ebi.ac.uk/biostudies/studies/S-EPMC4717207biostudies-literatureGenomics and metabolomics of muscular mass in a community-based sample of UK females.PMC4717207Korostishevsky MMalkin IWilliams FMSteves CJLivshits GSpector TfalseGenomics and metabolomics of muscular mass in a community-based sample of UK females.The contribution of specific molecular-genetic factors to muscle mass variation and sarcopenia remains largely unknown. To identify endogenous molecules and specific genetic factors associated with appendicular lean mass (APLM) in the general population, cross-sectional data from the TwinsUK Adult Twin Registry were used. Non-targeted mass spec-based metabolomic profiling was performed on plasma of 3953 females (mostly dizygotic and monozygotic twins). APLM was measured using dual-energy X-ray absorptiometry (DXA) and genotyping was genome-wide (GWAS). Specific metabolites were used as intermediate phenotypes in the identification of single-nucleotide polymorphisms associated with APLM using GWAS. In all, 162 metabolites were found significantly correlated with APLM, and explained 17.4% of2016-01-01T00:00:00Z2016 Feb2026-05-05T18:39:34.481Z2019-03-27T02:07:05ZS-EPMC47172072589892010.1038/ejhg.2015.85