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dc.contributor.author | Fiuza Luces, María del Carmen | spa |
dc.contributor.author | Ruiz, Jonatan R. | spa |
dc.contributor.author | Rodríguez Romo, Gabriel | spa |
dc.contributor.author | Santiago Dorrego, Catalina | spa |
dc.contributor.author | Gómez Gallego, Félix | spa |
dc.contributor.author | Yvert, Thomas Paul | spa |
dc.contributor.author | Cano-Nieto, Amalia | spa |
dc.contributor.author | Garatachea, Nuria | spa |
dc.contributor.author | Morán, María | spa |
dc.contributor.author | Lucía Mulas, Alejandro | spa |
dc.date.accessioned | 2013-11-27T17:25:56Z | |
dc.date.available | 2013-11-27T17:25:56Z | |
dc.date.issued | 2011 | spa |
dc.identifier.citation | Fiuza-Luces, M. C., Ruiz, J. R., Rodríguez-Romo, G., Santiago-Dorrego, C., Gómez-Gallego, F., Yvert, T., …, & Lucía-Mulas, A. (2011). Are 'endurance' alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism. PloS One, 6(3). | spa |
dc.identifier.issn | 19326203 | spa |
dc.identifier.uri | http://hdl.handle.net/11268/305 | |
dc.description.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. | spa |
dc.language.iso | eng | spa |
dc.subject.other | Alleles* | spa |
dc.subject.other | Amino Acid Substitution/*Genetics | spa |
dc.subject.other | Physical Endurance/*Genetics | spa |
dc.subject.other | Polymorphism, Single Nucleotide/*Genetics | spa |
dc.subject.other | Cohort Studies | spa |
dc.subject.other | Female | spa |
dc.subject.other | Genotype | spa |
dc.subject.other | Humans | spa |
dc.subject.other | Male | spa |
dc.title | Are 'endurance' alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism | spa |
dc.type | article | spa |
dc.description.impact | 4.092 JCR (2011) Q1, 12/85 Biology | spa |
dc.identifier.doi | 10.1371/journal.pone.0017558 | spa |
dc.rights.accessRights | openAccess | en |
dc.subject.unesco | Genética humana | spa |
dc.subject.unesco | Fisiología humana | spa |
dc.description.filiation | UEM | spa |
dc.peerreviewed | Si | spa |