Association of the Polymorphic Marker rs1614148 of the EGLN1 Gene with Aerobic Capacity in Athletes

Recent studies have shown an association between the rs1614148 polymorphism of Egl-9 family hypoxia-inducible factor 1 (EGLN1) gene and maximum oxygen consumption (VO2max) in untrained individuals. The association of this polymorphism with aerobic performance in athletes and with haematological parameters has not been previously studied. The purpose of this research was to study the association of the polymorphic marker rs1614148 of the EGLN1 gene with aerobic performance and haematological parameters in athletes of different specializations and qualifications. The study involved 1309 athletes specialized in different sports (538 females 21.9 ± 4.1 years old and 771 males 22.4 ± 4.8 years old). At the time of the survey, 132 athletes had the qualification of Honored Master of Sports (HMS), 331 were qualified as International Master of Sports (IMS), 444 as Master of Sports (MS), 257 as Candidate Master of Sports (CMS), and 145 had popular sports categories. The control group consisted of 284 non-athletes (44.5 ± 4.1 years). DNA was isolated from buccal epithelial cells or from venous blood leukocytes. Genotyping was performed by real-time PCR or microarray analysis. Athletes were assessed for aerobic performance using spiroergometry (n = 259) and haematological parameters were determined (n = 240). A predominance of the rs1614148*A allele has been found both in highly qualified athletes and in the general group of endurance athletes compared to speed–strength athletes (26.3% vs. 15.8%, χ2 = 3.81, odds ratio (OR) = 1.90, p = 0.025). An association of the rs1614148 AA genotype of the EGLN1 gene with higher VO2max (p = 0.047) was observed in the IMS and HMS group, which is consistent with the literature data. No effect of the EGLN1 gene polymorphism on haematological parameters has been found. Therefore, the rs1614148*A allele predominates in the group of endurance athletes, which may be explained by its association with high aerobic capacity.