Is there an optimum endurance polygenic profile?

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dc.contributor.author Ruiz, Jonatan R. spa
dc.contributor.author Gómez Gallego, Félix spa
dc.contributor.author Santiago Dorrego, Catalina spa
dc.contributor.author González-Freire, Marta spa
dc.contributor.author Verde Rello, Zoraida spa
dc.contributor.author Foster, Carl spa
dc.contributor.author Lucía Mulas, Alejandro spa
dc.date.accessioned 2013-11-27T17:26:50Z
dc.date.available 2013-11-27T17:26:50Z
dc.date.issued 2009 spa
dc.identifier.citation Ruiz, J. R., Gómez‐Gallego, F., Santiago-Dorrego, C., González‐Freire, M., Verde-Rello, Z., Foster, C., & Lucía-Mulas, A. (2009). Is there an optimum endurance polygenic profile? The Journal of Physiology, 587(7), 1527-1534. spa
dc.identifier.uri http://hdl.handle.net/11268/1095
dc.description.abstract We analysed seven genetic polymorphisms that are candidates to explain individual variations in human endurance phenotypic traits, at least in Caucasian people (ACE Ins/Del, ACTN3 Arg577Ter, AMPD1 Gln12Ter, CKMM 1170 bp/985 + 185 bp, HFE His63Asp, GDF-8 Lys153Arg and PPARGC1A Gly482Ser) in 46 world-class endurance athletes and 123 controls (all Spanish Caucasians). Using the model developed by Williams & Folland we determined (1) the 'total genotype score' (TGS, from the accumulated combination of the seven polymorphisms, with a maximum value of '100' for the theoretically optimal polygenic score) in the non-athlete (control) group, in the athlete group and in the total Spanish population, and (2) the probability for the occurrence of Spanish individuals with the 'perfect' polygenic endurance profile (i.e. TGS = 100). The probability of a Spanish individual possessing a theoretically optimal polygenic profile for up to the seven candidate genetic polymorphisms we studied was very small, i.e. approximately 0.07% (or 1 in 1351 Spanish individuals). The mean TGS was higher in athletes (70.22 +/- 15.58) than in controls (62.43 +/- 11.45) and also higher than predicted for the total Spanish population (60.80 +/- 12.1), suggesting an overall more 'favourable' polygenic profile in the athlete group. However, only three of the best Spanish endurance athletes (who are also amongst the best in the world) had the best possible score for up to six genes and none of them had the optimal profile. Other polymorphisms yet undiscovered as well as several factors independent of genetic endowment may explain why some individuals reach the upper end of the endurance performance continuum. spa
dc.language.iso eng spa
dc.title Is there an optimum endurance polygenic profile? spa
dc.type article spa
dc.description.impact 2.872 SJR (2009) Q1, 1/106 Sports science, 14/171 Physiology spa
dc.identifier.doi 10.1113/jphysiol.2008.166645 spa
dc.rights.accessRights openAccess en
dc.subject.unesco Genética humana spa
dc.subject.unesco Atleta spa
dc.description.filiation UEM spa
dc.peerreviewed Si spa

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