HIF1A genetic polymorphism and endurance performance

McPhee, Jamie S., Jones, David A. and Williams, Alun G. (2008) HIF1A genetic polymorphism and endurance performance. In: Journal of Sports Sciences, S18-S19. Presented at BASES Annual Conference 2008, 2nd September 2008 - 4th September 2008, Brunel University, UK.

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Abstract

Hypoxia inducible factor 1 (HIF1) is a protein that induces gene expression related to metabolism, angiogenesis and erythropoiesis. A polymorphism in the alpha subunit of the HIF1 gene (HIF1A) at position P582S, giving C/T alleles, has been associated with the response of maximal oxygen uptake ([Vdot]O2max) to endurance training in elderly males (Prior et al., 2003: Physiological Genomics, 15, 20–26). Our purpose was to investigate the P582S polymorphism of HIF1alpha for association with endurance phenotypes and myosin heavy chain composition (MHC) in young women. Untrained females (18–37 years) completed pre- and post-training assessments of two-leg cycling [Vdot]O2max (n = 59) and one-leg cycling [Vdot]O2peak (n = 51). MHC (vastus lateralis) was assessed in 26 participants pre- and 19 post-training (18 pre- and post- training pairs). Participants trained on cycle ergometers for 45 min, 3 days/week for 6 weeks. Only one participant was TT genotype so groups of T-allele carriers (CT, n = 13) and non-carriers (CC, n = 46) were formed. No difference existed between genotypes for pre-training [Vdot]O2max (P = 0.649) but CT exhibited greater increases following training (302 versus 209 L · min−1, P = 0.050). There were no differences between genotypes for one-leg [Vdot]O2peak pre-training (P = 0.671) or training-induced changes (P = 0.567). No differences existed between genotypes for MHC before training. However, CT (n = 4) increased type IIa MHC following training (pre-training mean 50.6, s = 14.6%, post-training mean 56.3 s = 12.4%, P = 0.024), and tended to decrease type I MHC (pre-training mean 36.8, s = 10.0%, post-training mean 30.9, s = 8.6%, P = 0.103). CC (n = 14) increased type I MHC following training (pre-training mean 30.7, s = 10.9%, post-training mean 35.9, s = 8.6%, P = 0.035) partly due to a non-significant decrease in type IIa MHC (pre-training mean 54.6, s = 16.1%, post-training mean 49.9, s = 8.6%, P = 0.329). Therefore, a gene-environment interaction was observed, with changes in type I MHC significantly different between genotype groups (P = 0.024). The P582S HIF1A polymorphism was associated with the training response of [Vdot]O2max but not through alterations to the limb specific aerobic capacity, thus suggesting the possibility of an erythropoietic effect. Skeletal muscle MHC was, however, affected in a genotype-specific way. HIF1A is a potential genetic influence on endurance performance but more work is needed to replicate findings and elucidate underlying mechanisms.