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Please use this identifier to cite or link to this item: http://hdl.handle.net/10481/30992

Title: Are ‘Endurance’ Alleles ‘Survival’ Alleles? Insights from the ACTN3 R577X Polymorphism
Authors: Fiuza-Luces, Carmen
Ruiz, Jonatan R.
Rodríguez-Romo, Gabriel
Santiago, Catalina
Gómez-Gallego, Félix
Yvert, Thomas
Cano-Nieto, Amalia
Garatechea, Nuria
Morán, María
Lucía, Alejandro
Issue Date: 2011
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 ≥100years 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.
Sponsorship: This study was funded by the Fondo de Investigaciones Sanitarias (FIS, ref. # PS09/00194), and Swedish Council for Working Life and Social Research (FAS).
Publisher: Public Library of Science (PLOS)
Keywords: Alleles
Exercise
Human evolution
Muscle functions
Paleogenetics
Phenotypes
Skeletal muscles
Variant genotypes
URI: http://hdl.handle.net/10481/30992
ISSN: 1932-6203
Citation: Fiuza-Luces, C.; et al. Are ‘Endurance’ Alleles ‘Survival’ Alleles? Insights from the ACTN3 R577X Polymorphism. Plos One, 6(3): e17558 (2011). [http://hdl.handle.net/10481/30992]
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