ArticleEuropean journal of human genetics : EJHG2016
Genomics and metabolomics of muscular mass in a community-based sample of UK females.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Serum uric acid levels and multiple health outcomes: umbrella review of evidence from observational studies, randomised controlled trials, and Mendelian randomisation studies.BMJ (Clinical research ed.) · 2017Pooled it
- Trial
- Genetic Variation in Steroid and Xenobiotic Metabolizing Pathways and Enterolactone Excretion Before and After Flaxseed Intervention in African American and European American Women.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2019Trial
- D- and L-Amino Acid Blood Concentrations Are Affected in Children With Duchenne Muscular Dystrophy.Journal of cellular and molecular medicine · 2025Article
- Genetic determinants of muscle health: A population-based study.The Journal of frailty & aging · 2025Article
- Sphingolipid metabolites as potential circulating biomarkers for sarcopenia in men.Journal of cachexia, sarcopenia and muscle · 2024Article
- Serum dysregulation of serine and glycine metabolism as predictive biomarker for cognitive decline in frail elderly subjects.Translational psychiatry · 2024Article
- Plasma metabolites and physical function in patients undergoing hemodialysis.Scientific reports · 2024Article
- Aging-Related Sarcopenia: Metabolic Characteristics and Therapeutic Strategies.Aging and disease · 2024Review
- Article
- Metabolic signatures and risk of sarcopenia in suburb-dwelling older individuals by LC-MS-based untargeted metabonomics.Frontiers in endocrinology · 2024Article
- Plasma acylcarnitine in elderly Taiwanese: as biomarkers of possible sarcopenia and sarcopenia.BMC geriatrics · 2023Article
- Deletion of quinolinate phosphoribosyltransferase gene accelerates frailty phenotypes and neuromuscular decline with aging in a sex-specific pattern.Aging cell · 2023Article
- Metabolomic Analysis of Vitamin E Supplement Use in the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial.Nutrients · 2023Article
- Potential therapeutic targets for sarcopenia identified by Mendelian randomisation.Age and ageing · 2023Article
- Article
- Identification of traumatic acid as a potential plasma biomarker for sarcopenia using a metabolomics-based approach.Journal of cachexia, sarcopenia and muscle · 2022Article
- Metabolomics as an Important Tool for Determining the Mechanisms of Human Skeletal Muscle Deconditioning.International journal of molecular sciences · 2021Review
- Plasma high-resolution metabolomic phenotyping of lean mass in a United States adult cohort.JPEN. Journal of parenteral and enteral nutrition · 2021Article
- Article
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Authors and funding
6 authors.
Funding
Abstract
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% of its variation. However, the top three of them (unidentified substance X12063, urate, and mannose) explained 11.1% (P ≤ 9.25 × 10(-26)) so each was subjected to GWAS. Each metabolite showed highly significant (P ≤ 9.28 × 10(-46)) associations with genetic variants in the corresponding genomic regions. Mendelian randomization using these SNPs found no evidence for a direct causal effect of these metabolites on APLM. However, using a new software platform for bivariate analysis we showed that shared genetic factors contribute significantly (P ≤ 4.31 × 10(-43)) to variance in both the metabolites and APLM--independent of the effect of the associated SNPs. There are several metabolites, having a clear pattern of genetic inheritance, which are highly significantly associated with APLM and may provide a cheap and readily accessible biomarker of muscle mass. However, the mechanism by which the genetic factor influences muscle mass remains to be discovered.
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