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

Recent studies have shown an association between the rs1614148 polymorphism of the Egl-9 family hypoxia-inducible factor 1 (EGLN1) gene and maximal oxygen consumption (VO2) in untrained individuals. The association of this polymorphism with aerobic performance in athletes and with haematological parameters has not been previously investigated. The aim of this study was to investigate the association of the polymorphic marker rs1614148 of the EGLN1 gene with aerobic performance and haematological parameters in athletes of different specialisations and qualifications. 1309 athletes specialised in different sports were studied (538 females 21.9 ± 4.1 years, 771 males 22.4 ± 4.8 years). At the time of the survey, 132 athletes had the qualification of Honoured Master of Sports (HMS), 331 – International Master of Sports (IMS), 444 – Master of Sports (MS), 257 – Candidate Master of Sports (CMS) and 145 – 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 was found both in highly qualified athletes and in the general group of endurance athletes (stayers) compared to speed athletes (26.3% versus 15.8%, χ2 = 3.81, OR = 1.90, p = 0.025). An association of the rs1614148 AA genotype of the EGLN1 gene with higher BMD (p = 0.047) was observed in the IMS and HMS group, which is consistent with literature data. No effect of the EGLN1 gene polymorphism on haematological parameters was found. Thus, the rs1614148*A allele predominates in the group of stayers, which may be due to its association with high aerobic capacity.