Effect of HIF1A gene polymorphism on human muscle performance

Allele distribution of hypoxia-inducible factor gene (HIF1A; Pro582Ser polymorphism) was studied in power-oriented athletes and controls practicing no athletics; genotype relationships with muscle fiber composition were studied in speed skaters. Genotyping was carried out by PCR. The composition of muscle fibers was evaluated by the immunohistochemical analysis of m. vastus lateralis. The incidence of HIF1A Ser allele was significantly higher in weight-lifters than in controls (17.9 vs. 8.5%; p=0.001) and increased with athletic skill improvement. A relationship between HIF1A Ser allele and predominance of fast-twitch muscle fibers was shown (Pro/Ser 46.2 (13.8)%, Pro/Pro 31.4 (8.2)%; p=0.007). Hence, HIF1A Pro582Ser polymorphism is associated with muscle activity in humans.