Are calcineurin genes associated with athletic status? A function, replication study

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dc.contributor.author He, Zi-Hong spa
dc.contributor.author Hu, Yang spa
dc.contributor.author Li, Yan-Chun spa
dc.contributor.author Yvert, Thomas Paul spa
dc.contributor.author Santiago Dorrego, Catalina spa
dc.contributor.author Gómez Gallego, Félix spa
dc.contributor.author Ruiz, Jonatan R. spa
dc.contributor.author Lucía Mulas, Alejandro spa
dc.date.accessioned 2013-11-27T17:26:32Z
dc.date.available 2013-11-27T17:26:32Z
dc.date.issued 2011 spa
dc.identifier.citation He, Z. H., Hu, Y., Li, Y. C., Yvert, T., Santiago-Dorrego, C., Gómez-Gallego, F., ... & Lucía-Mulas, A. (2011). Are calcineurin genes associated with athletic status? A function, replication study. Medicine and Science in Sports and Exercise, 43(8), 1433-1440. spa
dc.identifier.issn 15300315 spa
dc.identifier.uri http://hdl.handle.net/11268/814
dc.description.abstract Purpose: Methods: Results: Conclusions: Polymorphisms in calcineurin genes are candidates to explain individual variations in endurance sports performance owing to the pivotal role that the calcineurin signaling pathway plays in the regulation of important cardiac and skeletal muscle phenotypes.We compared genotypic/allelic frequencies in 55 single nucleotide polymorphisms (SNP) of the five genes (PPP3CA, PPP3CB, PPP3CC, PPP3R1, and PPP3R2) encoding the calcineurin protein subunits between 123 elite runners (cases, n = 61 women) and 125 healthy nonathletes (controls, n = 56 women) from the same ethnic background (Han Chinese) and used the dual-luciferase reporter assay to analyze the functional significance of the associated SNP.The C allele of the PPP3CA rs3804358 polymorphism was overrepresented in athletes (17%) compared with controls (8%) (P = 0.003), whereas the T allele of the PPP3CB rs3763679 polymorphism was underrepresented in athletes (23%) compared with controls (37%) (P = 0.001). The luciferase reporter constructs containing C allele of the rs3804358 and rs3763679 polymorphisms produced significantly greater luciferase activity than that of the G or T alleles, respectively. However, the results on the two aforementioned polymorphisms were not corroborated in a Caucasian (Spanish) cohort of male elite endurance athletes (n = 100) and nonathletic male controls (n = 175).Although there are large differences between ethnicities and more research is needed, our findings suggest that intronic polymorphisms of the calcineurin genes have functional significance and show evidence of association with elite endurance performance in the northern Han Chinese population. spa
dc.language.iso eng spa
dc.title Are calcineurin genes associated with athletic status? A function, replication study spa
dc.type article spa
dc.description.impact 4.431 JCR (2011) Q1, 3/85 Sport sciences spa
dc.identifier.doi 10.1249/MSS.0b013e31820e7f38 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

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