Institute of Human Nutrition and Food Science, Christian-Albrechts-University Kiel, Kiel, Germany.
J Sports Sci. 2010 Oct;28(12):1355-9. doi: 10.1080/02640414.2010.507675.
Homozygosity for a premature stop codon at amino acid position 577 in the alpha-actinin-3 (ACTN3) gene leads to α-actinin-3 deficiency. This genotype is observed in approximately 18% of Caucasians. The ACTN3 R577X polymorphism has been previously associated with indicators of physical performance in several, but not all, studies. We examined the prevalence of R577X (rs1815739) and two additional haplotype tagging single nucleotide polymorphisms (htSNPs) of the ACTN3 gene (rs1791690 and rs2275998) in the Genathlete study comprising 316 male elite endurance athletes (VO2max 79.0+3.5 ml · kg(-1) · min(-1); mean +/- s) from North America, Finland, and Germany and 304 sedentary controls (VO2max 40.1+7.0 ml · kg(-1) · min(-1) matched by country of origin. The distribution of genotype and allele frequencies between the two groups was tested by Pearson chi-square and/or Fischer exact test. The prevalence of the 577X homozygote genotype was similar in endurance athletes and controls (20% and 17.5%, respectively). The resulting odds ratio for endurance performance in 577X homozygotes compared with 577R-allele carriers was 1.24 (95%CI 0.82-1.87, P = 0.3). The genotype distribution of the two htSNPs and haplotype frequencies did not differ significantly between athletes and controls. In conclusion, our findings indicate that ACTN3 R577X and other SNPs in ACTN3 are not genetic determinants of endurance performance in Caucasian males.
α-辅肌动蛋白-3（ACTN3）基因中第 577 位氨基酸的提前终止密码子纯合导致 α-辅肌动蛋白-3 缺乏。这种基因型在大约 18%的白种人中存在。ACTN3 R577X 多态性先前与几项、但不是所有研究中的身体表现指标相关。我们在 Genathlete 研究中检查了 R577X（rs1815739）和 ACTN3 基因的另外两个单核苷酸多态性（htSNP）rs1791690 和 rs2275998 的患病率，该研究包括来自北美、芬兰和德国的 316 名男性精英耐力运动员（VO2max 79.0+3.5 ml·kg-1·min-1；平均值+/-s）和 304 名久坐不动的对照者（VO2max 40.1+7.0 ml·kg-1·min-1，按原籍国匹配）。通过皮尔逊卡方和/或 Fisher 精确检验检验两组间基因型和等位基因频率的分布。耐力运动员和对照组 577X 纯合基因型的分布相似（分别为 20%和 17.5%）。与 577R-等位基因携带者相比，577X 纯合子耐力表现的比值比为 1.24（95%CI 0.82-1.87，P=0.3）。两个 htSNP 的基因型分布和单倍型频率在运动员和对照组之间没有显著差异。总之，我们的发现表明，ACTN3 R577X 和 ACTN3 中的其他 SNPs 不是白种男性耐力表现的遗传决定因素。
