Genetic polymorphisms in alpha-actinin 3 and ­adrenoceptor beta genes in Austrian elite athletes and healthy controls

Abstract

Background: During the last years many studies were conducted to investigate the contribution of various genetic variants to endurance and sprint/power performance of elite athletes. Data on team sport athletes are missing to a large extent. Therefore, the aim of the study was to investigate the frequency of selected polymorphisms on elite athlete status in Austrian team sport (handball, soccer), endurance and power athletes as well as in healthy control subjects. Methods: Genotype and allele frequencies of ACTN3 R577X (rs1815739), ADRB1 Ser49Gly (rs1801252), ADRB2 Arg16Gly (rs1042713), ADRB2 Gln27Glu (rs1042714) and the ADRB3 Trp64Arg (rs4994) polymorphisms were determined in 56 Austrian sprint/power athletes, 86 endurance athletes, 143 team sport athletes and 216 healthy non-athletic controls. Genomic DNA was extracted from saliva and genotyping was performed by real time polymerase chain reaction using a standard protocol. Results: Handball and soccer players had a higher frequency of the ACTN3 RR genotype and a lower frequency of RX + XX genotypes than the control group. Furthermore, the frequency of athletes being homozygous for the ADRB1 Ser49Ser genotype was significantly higher in team sport athletes in comparison to those competing in power/sprint sports. We did not detect any other differences in genotype distributions between the study groups. Conclusion: This study provides some evidence that the ACTN3 R577X and the ADRB1 Ser49Gly polymorphisms are associated with team sport performance. Larger prospective studies focusing on the genetic influence of performance development are required for confirmation of these findings.