EPAS1 gene variants are associated with sprint/power athletic performance in two cohorts of European athletes

BMC Genomics

Nir Eynon⁴  David J Bishop⁵  Zbigniew Jastrzebski¹  Lidia Skuza⁶  Marek Sawczuk²  Agnieszka Maciejewska-Karlowska²  Vladimir A Shumaylov³  Boris F Vashlyayev³  Dmitry A Dyatlov³  Vladimir P Pushkarev³  Pawel Cieszczyk²  Sarah Voisin⁵ 

[1] Department of Tourism and Recreation, Academy of Physical Education and Sport, Gdansk, Poland;Faculty of Physical Culture and Health Promotion, University of Szczecin, Szczecin, Poland;Ural State University of Physical Culture, Chelyabinsk, Russia;Murdoch Childrens Research Institute, The Royal Children’s Hospital, Melbourne, Australia;Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Melbourne, Australia;Cell Biology Department, Faculty of Biology, University of Szczecin, Szczecin, Poland

关键词: Sprint;    Endurance;    Genes;    Genomics;    EPAS1;    Athletic performance;   

Others  :  1217216
DOI  :  10.1186/1471-2164-15-382

 received in 2013-12-19, accepted in 2014-05-07,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Voisin et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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