ArticlePloS one2011
Are 'endurance' alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- Association between the ACTN3 R577X polymorphism and skeletal muscle mass: a systematic review and meta-analysis.Journal of physiological anthropology · 2026Pooled it
- Prediction of success in sports based on assumed individual genetic predisposition: lack of association with the C > T variant in the ACTN3 gene.Journal of physiological anthropology · 2025Pooled it
- Polymorphisms of PPARα and ACTN3 Among Adolescent Egyptian Athletes: A Case-Control Study.Life (Basel, Switzerland) · 2025Article
- Influence of exercise and dietary habits on the association of alpha-actinin-3 gene polymorphisms with physical function and body composition in community-dwelling individuals aged 60 years and older.Geriatrics & gerontology international · 2025Article
- Skeletal Muscle Expression of Actinin-3 (Frontiers in genetics · 2022Article
- Sarcopenia, Obesity, and Sarcopenic Obesity: Relationship with Skeletal Muscle Phenotypes and Single Nucleotide Polymorphisms.Journal of clinical medicine · 2021Article
- Muscular Strength and Quality of Life in Older Adults: The Role ofInternational journal of environmental research and public health · 2021Article
- Effect ofSports (Basel, Switzerland) · 2020Article
- Review
- Bone turnover response is linked to both acute and established metabolic changes in ultra-marathon runners.Endocrine · 2017Article
- Article
- The ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults.PloS one · 2015Article
- Exceptional longevity and muscle and fitness related genotypes: a functional in vitro analysis and case-control association replication study with SNPs THRH rs7832552, IL6 rs1800795, and ACSL1 rs6552828.Frontiers in aging neuroscience · 2015Article
- Mechanisms governing the health and performance benefits of exercise.British journal of pharmacology · 2013Review
- Do olympic athletes train as in the Paleolithic era?Sports medicine (Auckland, N.Z.) · 2013Article
- Are centenarians genetically predisposed to lower disease risk?Age (Dordrecht, Netherlands) · 2012Article
- Evolutionary aspects of human exercise--born to run purposefully.Ageing research reviews · 2012Review
- Single and combined influence of ACE and ACTN3 genotypes on muscle phenotypes in octogenarians.European journal of applied physiology · 2012Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Exercise phenotypes have played a key role for ensuring survival over human evolution. We speculated that some genetic variants that influence exercise phenotypes could be associated with exceptional survival (i.e. reaching ≥100 years of age). Owing to its effects on muscle structure/function, a potential candidate is the Arg(R)577Ter(X) polymorphism (rs1815739) in ACTN3, the structural gene encoding the skeletal muscle protein α-actinin-3. We compared the ACTN3 R577X genotype/allele frequencies between the following groups of ethnically-matched (Spanish) individuals: centenarians (cases, n = 64; 57 female; age range: 100-108 years), young healthy controls (n = 283, 67 females, 216 males; 21±2 years), and humans who are at the two end-points of exercise capacity phenotypes, i.e. muscle endurance (50 male professional road cyclists) and muscle power (63 male jumpers/sprinters). Although there were no differences in genotype/allele frequencies between centenarians (RR:28.8%; RX:47.5%; XX:23.7%), and controls (RR:31.8%; RX:49.8%; XX:18.4%) or endurance athletes (RR:28.0%; RX:46%; XX:26.0%), we observed a significantly higher frequency of the X allele (P = 0.019) and XX genotype (P = 0.011) in centenarians compared with power athletes (RR:47.6%; RX:36.5%;XX:15.9%). Notably, the frequency of the null XX (α-actinin-3 deficient) genotype in centenarians was the highest ever reported in non-athletic Caucasian populations. In conclusion, despite there were no significant differences with the younger, control population, overall the ACTN3 genotype of centenarians resembles that of world-class elite endurance athletes and differs from that of elite power athletes. Our preliminary data would suggest a certain 'survival' advantage brought about by α-actinin-3 deficiency and the 'endurance'/oxidative muscle phenotype that is commonly associated with this condition.
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