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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Veröffentlicht in:PLOS ONE 2012-08, Vol.7 (8), p.e43132-e43132
Hauptverfasser: 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
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container_issue 8
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container_title PLOS ONE
container_volume 7
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.
doi_str_mv 10.1371/journal.pone.0043132
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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&gt;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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source MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; SWEPUB Freely available online; Free Full-Text Journals in Chemistry; Public Library of Science (PLoS)
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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