ArticlePhysiological reports2015
Association of the ACTN3 R577X polymorphism with glucose tolerance and gene expression of sarcomeric proteins in human skeletal muscle.
Article in Physiological reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance.American journal of human genetics · 2018Pooled it
- The X genotype of the ACTN3 sports gene is associated with the endurance of the sportsperson from the South Indian population: a short study.European journal of applied physiology · 2026Article
- Metabolic Health and Fitness Do Not Differ Substantially Between Overweight Adults With and Without α-Actinin-3 Deficiency.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Biological properties of α-actinin-2 and its role and mechanisms in disease development.Frontiers in physiology · 2026Review
- Review
- Exploring protein relative relations in skeletal muscle proteomic analysis for insights into insulin resistance and type 2 diabetes.Scientific reports · 2024Article
- Combination of ACTN3 R577X and ACE I/D polymorphisms as a tool for prediction of obesity risk in children.International journal of obesity (2005) · 2021Article
- Goalkeepers Live Longer than Field Players: A Retrospective Cohort Analysis Based on World-Class Football Players.International journal of environmental research and public health · 2020Article
- Article
- Review
- Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans.International journal of obesity (2005) · 2017Article
- Transcriptomic analysis of chicken Myozenin 3 regulation reveals its potential role in cell proliferation.PloS one · 2017Article
- Molecular Cloning, Expression Profiling, and Marker Validation of the ChickenBioMed research international · 2017Article
- Article
- eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants.BMC medical genomics · 2016Article
- Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion.Human molecular genetics · 2016Article
- Rodent models for resolving extremes of exercise and health.Physiological genomics · 2016Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A common polymorphism (R577X) in the α-actinin (ACTN) 3 gene, which leads to complete deficiency of a functional protein in skeletal muscle, could directly influence metabolism in the context of health and disease. Therefore, we tested the hypothesis that states of glucose tolerance are associated with the ACTN3 R577X genotype. We analyzed the prevalence of the ACTN3 R577X polymorphism in people with normal glucose tolerance (NGT) and type 2 diabetes (T2D) and measured muscle-specific α-actinin 2 and 3 mRNA and protein abundance in skeletal muscle biopsies. Furthermore, we investigated the protein abundance of the myosin heavy chain isoforms and the components of the mitochondrial electron transport chain in skeletal muscle from people with NGT or T2D. mRNA of selected sarcomeric z-disk proteins was also assessed. Although the prevalence of the ACTN3 577XX genotype was higher in T2D patients, genotype distribution was unrelated to metabolic control or obesity. ACTN2 and ACTN3 mRNA expression and protein abundance was unchanged between NGT and T2D participants. Protein abundance of mitochondrial complexes II and IV was related to genotype and glucose tolerance status. Gene expression of sarcomeric z-disk proteins was increased in skeletal muscle from NGT participants with the ACTN3 577XX genotype. While genetic variation in ACTN3 does not influence metabolic control, genotype does appear to influence gene expression of other sarcomeric proteins, which could contribute to the functional properties of skeletal muscle and the fatigue-resistant phenotype associated with the R577X polymorphism.
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