title: EPAS1 gene variants are associated with sprint/power athletic performance in two cohorts of European athletes.
abstract: 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.
authors.forename: Sarah
authors.initials: S
authors.lastname: Voisin
authors.forename: Pawel
authors.initials: P
authors.lastname: Cieszczyk
authors.forename: Vladimir P
authors.initials: VP
authors.lastname: Pushkarev
authors.forename: Dmitry A
authors.initials: DA
authors.lastname: Dyatlov
authors.forename: Boris F
authors.initials: BF
authors.lastname: Vashlyayev
authors.forename: Vladimir A
authors.initials: VA
authors.lastname: Shumaylov
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Maciejewska-Karlowska
authors.forename: Marek
authors.initials: M
authors.lastname: Sawczuk
authors.forename: Lidia
authors.initials: L
authors.lastname: Skuza
authors.forename: Zbigniew
authors.initials: Z
authors.lastname: Jastrzebski
authors.forename: David J
authors.initials: DJ
authors.lastname: Bishop
authors.affiliation: Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Melbourne, Australia. nir.eynon@vu.edu.au.
authors.forename: Nir
authors.initials: N
authors.lastname: Eynon
mesh_terms: D000328:Adult; D000483:Alleles; D056352:Athletes; D054874:Athletic Performance; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics*; D000099162:Endothelial PAS Domain-Containing Protein 1
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D000099162:Endothelial PAS Domain-Containing Protein 1