Ser49Gly and Arg389Gly polymorphisms of the ADRB1 gene and endurance performance

Background: The ADRB1 gene encodes the β1-adrenergic receptor and is thought to influence exercise capacity because of its contribution to the regulation of the cardiovascular system. The aim of the study was to determine the distribution of the ADRB1 genotypes Ser49Gly and Arg389Gly and identify the haplotypes within a group of Polish athletes to investigate the possible association between genetic polymorphisms in ADRB1 and athletic performance.

Methodology: 223 Polish athletes and 354 volunteers were recruited for this study. All samples were genotyped using an allelic discrimination assay.

Results: The frequencies of the 49Gly allele and the 49Gly: Arg389 haplotype were significantly higher in the subgroup of endurance athletes than in the controls (11% vs. 6.4%, P=0.026; 11% vs. 6.3%, P=0.048 for 49Gly allele and 49Gly: Arg389 haplotype, respectively). The odds ratio of having the 49Gly allele vs. Ser49/Ser49 genotype for endurance athletes was 2.00 (95% CI: 1.16-3.47; P=0.018). In the Polish athletes, the odds ratio of the ADRB149Gly: Arg389 haplotype for endurance athletes subgroup was 1.82 (95% confidence interval 1.10-3.00; P=0.026).

Conclusions: Ser49Gly, but not Arg389Gly, marker of the ADRB1 gene and one haplotype combination of both polymorphisms are associated with endurance athlete status. The 49Gly variant and the 49Gly: Arg389 haplotype have a beneficial effect on sports proficiency.