ArticleBMC medical genetics2020
Disentangling the genetics of sarcopenia: prioritization of NUDT3 and KLF5 as genes for lean mass & HLA-DQB1-AS1 for hand grip strength with the associated enhancing SNPs & a scoring system.
Article in BMC medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 27 citations in OpenAlex.
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- Immunogenetic Aspects of Sarcopenic Obesity.Genes · 2024Review
- Relationship between DNA methylation changes and skeletal muscle mass.BMC genomic data · 2023Article
- Network reconstruction for trans acting genetic loci using multi-omics data and prior information.Genome medicine · 2022Article
- Unveiling genetic variants for age-related sarcopenia by conducting a genome-wide association study on Korean cohorts.Scientific reports · 2022Article
- Strength training in elderly: An useful tool against sarcopenia.Frontiers in sports and active living · 2022Review
- Review
- The Association of Mitochondrial Copy Number With Sarcopenia in Adult Survivors of Childhood Cancer.Journal of the National Cancer Institute · 2021Article
- New structural insights reveal an expanded reaction cycle for inositol pyrophosphate hydrolysis by human DIPP1.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- Identification of an Autophagy-Related lncRNA Prognostic Signature and Related Tumor Immunity Research in Lung Adenocarcinoma.Frontiers in genetics · 2021Article
- Intersecting Genetics of Frailty and Cardiovascular Disease.The journal of nutrition, health & aging · 2021Article
- Polymorphism rs10105606 ofJournal of inflammation research · 2021Article
- A Genome-Wide Association Study Identifies Novel Risk Loci for Sarcopenia in a Taiwanese Population.Journal of inflammation research · 2021Article
- Sarcopenia: What Is the Origin of This Aging-Induced Disorder?Frontiers in genetics · 2021Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSarcopenia is a skeletal muscle disease of clinical importance that occurs commonly in old age and in various disease sub-categories. Widening the scope of knowledge of the genetics of muscle mass and strength is important because it may allow to identify patients with an increased risk to develop a specific musculoskeletal disease or condition such as sarcopenia based on genetic markers.
methodsWe used bioinformatics tools to identify gene loci responsible for regulating muscle strength and lean mass, which can then be a target for downstream lab experimentation validation. Single nuclear polymorphisms (SNPs) associated with various disease traits of muscles and specific genes were chosen according to their muscle phenotype association p-value, as traditionally done in Genome Wide Association Studies, GWAS. We've developed and applied a combination of expression quantitative trait loci (eQTLs) and GWAS summary information, to prioritize causative SNP and point out the unique genes associated in the tissues of interest (muscle).
resultsWe found NUDT3 and KLF5 for lean mass and HLA-DQB1-AS1 for hand grip strength as candidate genes to target for these phenotypes. The associated regulatory SNPs are rs464553, rs1028883 and rs3129753 respectively.
conclusionTranscriptome Wide Association Studies, TWAS, approaches of combining GWAS and eQTL summary statistics proved helpful in statistically prioritizing genes and their associated SNPs for the disease phenotype of study, in this case, Sarcopenia. Potentially regulatory SNPs associated with these genes, and the genes further prioritized by a scoring system, can be then wet lab verified, depending on the phenotype it is hypothesized to affect.
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