The HIF1A Gene Pro582Ser Polymorphism in Russian Strength Athletes

Abstract

Hypoxia-inducible factor-1α (encoded by HIF1A gene) controls a number of genes that are implicated in various cellular functions including glycolysis and cell proliferation and differentiation. The rs11549465 C > T polymorphism in the HIF1A gene, which produces the amino acid substitution Pro582Ser, increases protein stability and transcriptional activity and, therefore, improves glucose metabolism. The aim of our study was to investigate the association between the HIF1A Pro582Ser polymorphism and elite strength athlete status. A total of 208 Russian strength athletes (122 weightlifters and 86 wrestlers) of regional or national competitive standard and 1,413 controls were genotyped using the polymerase chain reaction-restriction fragment length polymorphism method. We found that the frequency of the HIF1A 582Ser variant was significantly higher in weightlifters (13.1%, p = 0.0031) and wrestlers (15.7%, p = 0.0002) compared with the controls (7.5%). Additionally, the highest (21.1%, p = 0.0052) frequency of the 582Ser variant was found in a group of elite strength athletes. Thus, our study provides evidence for an association between the HIF1A gene Pro582Ser polymorphism and elite strength athlete status. Although more replication studies are needed, the preliminary data suggest an opportunity to use the analysis of HIF1A polymorphism along with other gene variations and standard phenotypic assessment in sports selection.

Current Progress in Sports Genomics

“…highly elite (25.0%)). These results were replicated in three cohorts of 158 Polish power-orientated athletes [218], 208 Russian power-oriented athletes (122 weightlifters and 86 wrestlers) [219], and 110 Ukrainian power-oriented athletes [220], but not in 81 Israeli sprinters [221]. Furthermore, the 582Ser allele was significantly associated with an increased proportion of fast-twitch muscle fibers in m. vastus lateralis of all-round speed skaters [217].…”

Understanding Personalized Training Responses: Can Genetic Assessment Help?

“…Subsequent research has confirmed the association between the R allele and power performance, although the link between the X allele and endurance is less clear [49]. Other replicated SNPs found to affect athletic performance include ACE I/D [50 -52], PPARGC1A Gly482Ser [53 -55], GABPB1 (rs7181866) [56,57], BDKRB2 +9/-9 [58,59], and HIF1A Pro582Ser [60,61].…”

Atletik Performans ve Spor Genetiği

“…HIF-1α geni esas olarak oksijen tüketimi ile ilişkilendirilmesine rağmen, oksijenden bağımsız mekanizmalarla da düzenlenmektedir. Örneğin, HIF-1α'nın insülin benzeri büyüme faktörü (IGF) -1'ü aktive ettiği bilinmektedir [99]. Cıeszczyk…”