Are 'endurance' alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism.

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 pot...

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Autores principales:	Carmen Fiuza-Luces, Jonatan R Ruiz, Gabriel Rodríguez-Romo, Catalina Santiago, Félix Gómez-Gallego, Thomas Yvert, Amalia Cano-Nieto, Nuria Garatachea, María Morán, Alejandro Lucia
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2011
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/a23d5b91b2524d968cab0e8bf6433ab8
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spelling	oai:doaj.org-article:a23d5b91b2524d968cab0e8bf6433ab82021-11-18T06:57:49ZAre 'endurance' alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism.1932-620310.1371/journal.pone.0017558https://doaj.org/article/a23d5b91b2524d968cab0e8bf6433ab82011-03-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21407828/?tool=EBIhttps://doaj.org/toc/1932-6203Exercise 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.Carmen Fiuza-LucesJonatan R RuizGabriel Rodríguez-RomoCatalina SantiagoFélix Gómez-GallegoThomas YvertAmalia Cano-NietoNuria GaratacheaMaría MoránAlejandro LuciaPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 6, Iss 3, p e17558 (2011)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Carmen Fiuza-Luces Jonatan R Ruiz Gabriel Rodríguez-Romo Catalina Santiago Félix Gómez-Gallego Thomas Yvert Amalia Cano-Nieto Nuria Garatachea María Morán Alejandro Lucia Are 'endurance' alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism.
description	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.
format	article
author	Carmen Fiuza-Luces Jonatan R Ruiz Gabriel Rodríguez-Romo Catalina Santiago Félix Gómez-Gallego Thomas Yvert Amalia Cano-Nieto Nuria Garatachea María Morán Alejandro Lucia
author_facet	Carmen Fiuza-Luces Jonatan R Ruiz Gabriel Rodríguez-Romo Catalina Santiago Félix Gómez-Gallego Thomas Yvert Amalia Cano-Nieto Nuria Garatachea María Morán Alejandro Lucia
author_sort	Carmen Fiuza-Luces
title	Are 'endurance' alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism.
title_short	Are 'endurance' alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism.
title_full	Are 'endurance' alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism.
title_fullStr	Are 'endurance' alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism.
title_full_unstemmed	Are 'endurance' alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism.
title_sort	are 'endurance' alleles 'survival' alleles? insights from the actn3 r577x polymorphism.
publisher	Public Library of Science (PLoS)
publishDate	2011
url	https://doaj.org/article/a23d5b91b2524d968cab0e8bf6433ab8
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Are 'endurance' alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism.

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