ArticlePloS one2015
The ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00966407 (Assessing Inherited Markers of Metabolic Syndrome in the Young), which is not on this map. Cited by 17 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Assessing Inherited Markers of Metabolic Syndrome in the Young
Who cites it
17 citing papers in PubMed, 39 citations in OpenAlex.
- ACTN3 Gene and Susceptibility to Sarcopenia and Osteoporotic Status in Older Korean Adults.BioMed research international · 2017Trial
- 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
- Managing Refractory Hypertension: A Case Study Exploring the Influence of ACE and ACTN3 Gene Polymorphisms.Pharmacogenomics and personalized medicine · 2025Article
- The Association of Genetic Markers Involved in Muscle Performance Responding to Lactate Levels during Physical Exercise Therapy by Nordic Walking in Patients with Long COVID Syndrome: A Nonrandomized Controlled Pilot Study.International journal of molecular sciences · 2024Article
- Anti-Hypercholesterolemia Effects of Edible Seaweed Extracts and Metabolomic Changes in Hep-G2 and Caco-2 Cell Lines.Life (Basel, Switzerland) · 2023Article
- Muscular Strength and Quality of Life in Older Adults: The Role ofInternational journal of environmental research and public health · 2021Article
- Article
- Effect ofSports (Basel, Switzerland) · 2020Article
- Distribution of allele frequencies for genes associated with physical activity and/or physical capacity in a homogenous Norwegian cohort- a cross-sectional study.BMC genetics · 2020Article
- Association ofInternational journal of environmental research and public health · 2019Article
- Review
- The relationship betweenBiology of sport · 2019Article
- ACTN3 is associated with children's physical fitness in Han Chinese.Molecular genetics and genomics : MGG · 2019Article
- Review
- Greater Progression of Age-Related Aortic Stiffening in Adults with Poor Trunk Flexibility: A 5-Year Longitudinal Study.Frontiers in physiology · 2017Article
- Association of ACTN3 polymorphisms with BMD, and physical fitness of elderly women.Journal of physical therapy science · 2016Article
- Analysis of the Relationship Between ADIPOR1 Variants and the Susceptibility of Chronic Metabolic Diseases in a Northeast Han Chinese Population.Genetic testing and molecular biomarkers · 2016Article
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 2 countries.
Funding
Abstract
Homozygosity for a premature stop codon (X) in the ACTN3 "sprinter" gene is common in humans despite the fact that it reduces muscle size, strength and power. Because of the close relationship between skeletal muscle function and cardiometabolic health we examined the influence of ACTN3 R577X polymorphism over cardiovascular and metabolic characteristics of young adults (n = 98 males, n = 102 females; 23 ± 4.2 years) from our Assessing Inherent Markers for Metabolic syndrome in the Young (AIMMY) study. Both males and females with the RR vs XX genotype achieved higher mean VO2 peak scores (47.8 ± 1.5 vs 43.2 ±1.8 ml/O2/min, p = 0.002) and exhibited higher resting systolic (115 ± 2 vs 105 ± mmHg, p = 0.027) and diastolic (69 ± 3 vs 59 ± 3 mmHg, p = 0.005) blood pressure suggesting a role for ACTN3 in the maintenance of vascular tone. We subsequently identified the expression of alpha-actinin 3 protein in pulmonary artery smooth muscle, which may explain the genotype-specific differences in cardiovascular adaptation to acute exercise. In addition, we utilized targeted serum metabolomics to distinguish between RR and XX genotypes, suggesting an additional role for the ACTN3 R577X polymorphism in human metabolism. Taken together, these results identify significant cardiometabolic effects associated with possessing one or more functional copies of the ACTN3 gene.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.