The ACTN3 R577X polymorphism across three groups of elite male European athletes
The ACTN3 R577X polymorphism (rs1815739) is a strong candidate to influence elite athletic performance. Yet, controversy exists in the literature owing to between-studies differences in the ethnic background and sample size of the cohorts, the latter being usually low, which makes comparisons diffic...
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creator | Eynon, Nir Ruiz, Jonatan R Femia, Pedro Pushkarev, Vladimir P Cieszczyk, Pawel Maciejewska-Karlowska, Agnieszka Sawczuk, Marek Dyatlov, Dmitry A Lekontsev, Evgeny V Kulikov, Leonid M Birk, Ruth Bishop, David J Lucia, Alejandro |
description | The ACTN3 R577X polymorphism (rs1815739) is a strong candidate to influence elite athletic performance. Yet, controversy exists in the literature owing to between-studies differences in the ethnic background and sample size of the cohorts, the latter being usually low, which makes comparisons difficult. In this case:control genetic study we determined the association between elite athletic status and the ACTN3 R577X polymorphism within three cohorts of European Caucasian men, i.e. Spanish, Polish and Russian [633 cases (278 elite endurance and 355 power athletes), and 808 non-athletic controls]. The odds ratio (OR) of a power athlete harbouring the XX versus the RR genotype compared with sedentary controls was 0.54 [95% confidence interval (CI): 0.34-0.48; P=0.006]. We also observed that the OR of an endurance athlete having the XX versus the RR genotype compared with power athletes was 1.88 (95%CI: 1.07-3.31; P=0.028). In endurance athletes, the OR of a "world-class" competitor having the XX genotype versus the RR+RX genotype was 3.74 (95%CI: 1.08-12.94; P=0.038) compared with those of a lower ("national") competition level. No association (P>0.1) was noted between the ACTN3 R577X polymorphism and competition level (world-class versus national-level) in power athletes. Our data provide comprehensive support for the influence of the ACTN3 R577X polymorphism on elite athletic performance. |
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Yet, controversy exists in the literature owing to between-studies differences in the ethnic background and sample size of the cohorts, the latter being usually low, which makes comparisons difficult. In this case:control genetic study we determined the association between elite athletic status and the ACTN3 R577X polymorphism within three cohorts of European Caucasian men, i.e. Spanish, Polish and Russian [633 cases (278 elite endurance and 355 power athletes), and 808 non-athletic controls]. The odds ratio (OR) of a power athlete harbouring the XX versus the RR genotype compared with sedentary controls was 0.54 [95% confidence interval (CI): 0.34-0.48; P=0.006]. We also observed that the OR of an endurance athlete having the XX versus the RR genotype compared with power athletes was 1.88 (95%CI: 1.07-3.31; P=0.028). In endurance athletes, the OR of a "world-class" competitor having the XX genotype versus the RR+RX genotype was 3.74 (95%CI: 1.08-12.94; P=0.038) compared with those of a lower ("national") competition level. No association (P>0.1) was noted between the ACTN3 R577X polymorphism and competition level (world-class versus national-level) in power athletes. Our data provide comprehensive support for the influence of the ACTN3 R577X polymorphism on elite athletic performance.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0043132</identifier><identifier>PMID: 22916217</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Actinin - genetics ; Adult ; Analysis ; Athletes ; Athletic Performance - physiology ; Bicycling ; Biology ; Competition ; Confidence intervals ; Durability ; Endurance ; European Continental Ancestry Group ; Exercise ; Genes ; Genetic aspects ; Genetic polymorphisms ; Genetics ; Genomics ; Genotype & phenotype ; Genotypes ; Humans ; Male ; Medicine ; Nutrition ; Polymorphism ; Polymorphism, Genetic - genetics ; Power ; Studies ; Track & field ; Volleyball ; White people ; Young Adult</subject><ispartof>PLOS ONE, 2012-08, Vol.7 (8), p.e43132-e43132</ispartof><rights>COPYRIGHT 2012 Public Library of Science</rights><rights>Eynon et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2012 Eynon et al 2012 Eynon et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c796t-267dfa3a1becde36641e7f1c96a58b5422ff088f2543906bda9a21b293524f233</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3420864/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3420864/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,550,723,776,780,860,881,2096,2915,23845,27901,27902,53766,53768,79343,79344</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22916217$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttp://kipublications.ki.se/Default.aspx?queryparsed=id:125147880$$DView record from Swedish Publication Index$$Hfree_for_read</backlink></links><search><creatorcontrib>Eynon, Nir</creatorcontrib><creatorcontrib>Ruiz, Jonatan R</creatorcontrib><creatorcontrib>Femia, Pedro</creatorcontrib><creatorcontrib>Pushkarev, Vladimir P</creatorcontrib><creatorcontrib>Cieszczyk, Pawel</creatorcontrib><creatorcontrib>Maciejewska-Karlowska, Agnieszka</creatorcontrib><creatorcontrib>Sawczuk, Marek</creatorcontrib><creatorcontrib>Dyatlov, Dmitry A</creatorcontrib><creatorcontrib>Lekontsev, Evgeny V</creatorcontrib><creatorcontrib>Kulikov, Leonid M</creatorcontrib><creatorcontrib>Birk, Ruth</creatorcontrib><creatorcontrib>Bishop, David J</creatorcontrib><creatorcontrib>Lucia, Alejandro</creatorcontrib><title>The ACTN3 R577X polymorphism across three groups of elite male European athletes</title><title>PLOS ONE</title><addtitle>PLoS One</addtitle><description>The ACTN3 R577X polymorphism (rs1815739) is a strong candidate to influence elite athletic performance. Yet, controversy exists in the literature owing to between-studies differences in the ethnic background and sample size of the cohorts, the latter being usually low, which makes comparisons difficult. In this case:control genetic study we determined the association between elite athletic status and the ACTN3 R577X polymorphism within three cohorts of European Caucasian men, i.e. Spanish, Polish and Russian [633 cases (278 elite endurance and 355 power athletes), and 808 non-athletic controls]. The odds ratio (OR) of a power athlete harbouring the XX versus the RR genotype compared with sedentary controls was 0.54 [95% confidence interval (CI): 0.34-0.48; P=0.006]. We also observed that the OR of an endurance athlete having the XX versus the RR genotype compared with power athletes was 1.88 (95%CI: 1.07-3.31; P=0.028). In endurance athletes, the OR of a "world-class" competitor having the XX genotype versus the RR+RX genotype was 3.74 (95%CI: 1.08-12.94; P=0.038) compared with those of a lower ("national") competition level. No association (P>0.1) was noted between the ACTN3 R577X polymorphism and competition level (world-class versus national-level) in power athletes. 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One</addtitle><date>2012-08-16</date><risdate>2012</risdate><volume>7</volume><issue>8</issue><spage>e43132</spage><epage>e43132</epage><pages>e43132-e43132</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>The ACTN3 R577X polymorphism (rs1815739) is a strong candidate to influence elite athletic performance. Yet, controversy exists in the literature owing to between-studies differences in the ethnic background and sample size of the cohorts, the latter being usually low, which makes comparisons difficult. In this case:control genetic study we determined the association between elite athletic status and the ACTN3 R577X polymorphism within three cohorts of European Caucasian men, i.e. Spanish, Polish and Russian [633 cases (278 elite endurance and 355 power athletes), and 808 non-athletic controls]. The odds ratio (OR) of a power athlete harbouring the XX versus the RR genotype compared with sedentary controls was 0.54 [95% confidence interval (CI): 0.34-0.48; P=0.006]. We also observed that the OR of an endurance athlete having the XX versus the RR genotype compared with power athletes was 1.88 (95%CI: 1.07-3.31; P=0.028). In endurance athletes, the OR of a "world-class" competitor having the XX genotype versus the RR+RX genotype was 3.74 (95%CI: 1.08-12.94; P=0.038) compared with those of a lower ("national") competition level. No association (P>0.1) was noted between the ACTN3 R577X polymorphism and competition level (world-class versus national-level) in power athletes. Our data provide comprehensive support for the influence of the ACTN3 R577X polymorphism on elite athletic performance.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>22916217</pmid><doi>10.1371/journal.pone.0043132</doi><tpages>e43132</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Actinin - genetics Adult Analysis Athletes Athletic Performance - physiology Bicycling Biology Competition Confidence intervals Durability Endurance European Continental Ancestry Group Exercise Genes Genetic aspects Genetic polymorphisms Genetics Genomics Genotype & phenotype Genotypes Humans Male Medicine Nutrition Polymorphism Polymorphism, Genetic - genetics Power Studies Track & field Volleyball White people Young Adult |
title | The ACTN3 R577X polymorphism across three groups of elite male European athletes |
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