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EPAS1 gene variants are associated with sprint/power athletic performance in two cohorts of European athletes
BACKGROUND: The endothelial PAS domain protein 1 (EPAS1) activates genes that are involved in erythropoiesis and angiogenesis, thus favoring a better delivery of oxygen to the tissues and is a plausible candidate to influence athletic performance. Using innovative statistical methods we compared gen...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4035083/ https://www.ncbi.nlm.nih.gov/pubmed/24884370 http://dx.doi.org/10.1186/1471-2164-15-382 |
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author | Voisin, Sarah Cieszczyk, Pawel Pushkarev, Vladimir P Dyatlov, Dmitry A Vashlyayev, Boris F Shumaylov, Vladimir A Maciejewska-Karlowska, Agnieszka Sawczuk, Marek Skuza, Lidia Jastrzebski, Zbigniew Bishop, David J Eynon, Nir |
author_facet | Voisin, Sarah Cieszczyk, Pawel Pushkarev, Vladimir P Dyatlov, Dmitry A Vashlyayev, Boris F Shumaylov, Vladimir A Maciejewska-Karlowska, Agnieszka Sawczuk, Marek Skuza, Lidia Jastrzebski, Zbigniew Bishop, David J Eynon, Nir |
author_sort | Voisin, Sarah |
collection | PubMed |
description | BACKGROUND: The endothelial PAS domain protein 1 (EPAS1) activates genes that are involved in erythropoiesis and angiogenesis, thus favoring a better delivery of oxygen to the tissues and is a plausible candidate to influence athletic performance. Using innovative statistical methods we compared genotype distributions and interactions of EPAS1 SNPs rs1867785, rs11689011, rs895436, rs4035887 and rs1867782 between sprint/power athletes (n = 338), endurance athletes (n = 254), and controls (603) in Polish and Russian samples. We also examined the association between these SNPs and the athletes’ competition level (‘elite’ and ‘sub-elite’ level). Genotyping was performed by either Real-Time PCR or by Single-Base Extension (SBE) method. RESULTS: In the pooled cohort of Polish and Russian athletes, 1) rs1867785 was associated with sprint/power athletic status; the AA genotype in rs1867785 was underrepresented in the sprint/power athletes, 2) rs11689011 was also associated with sprint/power athletic status; the TT genotype in rs11689011 was underrepresented sprint/power athletes, and 3) the interaction between rs1867785, rs11689011, and rs4035887 was associated with sprint/power athletic performance; the combinations of the AA genotype in rs4035887 with either the AG or GG genotypes in rs1867785, or with the CT or CC genotypes in rs11689011, were underrepresented in two cohorts of sprint/power athletes. CONCLUSIONS: Based on the unique statistical model rs1867785/rs11689011 are strong predictors of sprint/power athletic status, and the interaction between rs1867785, rs11689011, and rs4035887 might contribute to success in sprint/power athletic performance. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/1471-2164-15-382) contains supplementary material, which is available to authorized users. |
format | Online Article Text |
id | pubmed-4035083 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-40350832014-06-06 EPAS1 gene variants are associated with sprint/power athletic performance in two cohorts of European athletes Voisin, Sarah Cieszczyk, Pawel Pushkarev, Vladimir P Dyatlov, Dmitry A Vashlyayev, Boris F Shumaylov, Vladimir A Maciejewska-Karlowska, Agnieszka Sawczuk, Marek Skuza, Lidia Jastrzebski, Zbigniew Bishop, David J Eynon, Nir BMC Genomics Research Article BACKGROUND: The endothelial PAS domain protein 1 (EPAS1) activates genes that are involved in erythropoiesis and angiogenesis, thus favoring a better delivery of oxygen to the tissues and is a plausible candidate to influence athletic performance. Using innovative statistical methods we compared genotype distributions and interactions of EPAS1 SNPs rs1867785, rs11689011, rs895436, rs4035887 and rs1867782 between sprint/power athletes (n = 338), endurance athletes (n = 254), and controls (603) in Polish and Russian samples. We also examined the association between these SNPs and the athletes’ competition level (‘elite’ and ‘sub-elite’ level). Genotyping was performed by either Real-Time PCR or by Single-Base Extension (SBE) method. RESULTS: In the pooled cohort of Polish and Russian athletes, 1) rs1867785 was associated with sprint/power athletic status; the AA genotype in rs1867785 was underrepresented in the sprint/power athletes, 2) rs11689011 was also associated with sprint/power athletic status; the TT genotype in rs11689011 was underrepresented sprint/power athletes, and 3) the interaction between rs1867785, rs11689011, and rs4035887 was associated with sprint/power athletic performance; the combinations of the AA genotype in rs4035887 with either the AG or GG genotypes in rs1867785, or with the CT or CC genotypes in rs11689011, were underrepresented in two cohorts of sprint/power athletes. CONCLUSIONS: Based on the unique statistical model rs1867785/rs11689011 are strong predictors of sprint/power athletic status, and the interaction between rs1867785, rs11689011, and rs4035887 might contribute to success in sprint/power athletic performance. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/1471-2164-15-382) contains supplementary material, which is available to authorized users. BioMed Central 2014-05-18 /pmc/articles/PMC4035083/ /pubmed/24884370 http://dx.doi.org/10.1186/1471-2164-15-382 Text en © Voisin et al.; licensee BioMed Central Ltd. 2014 This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Article Voisin, Sarah Cieszczyk, Pawel Pushkarev, Vladimir P Dyatlov, Dmitry A Vashlyayev, Boris F Shumaylov, Vladimir A Maciejewska-Karlowska, Agnieszka Sawczuk, Marek Skuza, Lidia Jastrzebski, Zbigniew Bishop, David J Eynon, Nir EPAS1 gene variants are associated with sprint/power athletic performance in two cohorts of European athletes |
title | EPAS1 gene variants are associated with sprint/power athletic performance in two cohorts of European athletes |
title_full | EPAS1 gene variants are associated with sprint/power athletic performance in two cohorts of European athletes |
title_fullStr | EPAS1 gene variants are associated with sprint/power athletic performance in two cohorts of European athletes |
title_full_unstemmed | EPAS1 gene variants are associated with sprint/power athletic performance in two cohorts of European athletes |
title_short | EPAS1 gene variants are associated with sprint/power athletic performance in two cohorts of European athletes |
title_sort | epas1 gene variants are associated with sprint/power athletic performance in two cohorts of european athletes |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4035083/ https://www.ncbi.nlm.nih.gov/pubmed/24884370 http://dx.doi.org/10.1186/1471-2164-15-382 |
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