ACTN3 R577X and other polymorphisms are not associated with elite endurance athlete status in the Genathlete study
ACTN3 R577X and other polymorphisms are not associated with elite endurance athlete status in the Genathlete study
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DOI：
10.1080/02640414.2010.507675
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发表时间：
2010-01-01
影响因子：
3.4
通讯作者：
Bouchard, C.
中科院分区：
文献类型：
--
作者：
Doering, Frank E.;Onur, Simone;Bouchard, C.
α -肌动蛋白-3 （ACTN3）基因中577个氨基酸位置过早终止密码子的纯合性导致-肌动蛋白-3缺陷。在大约18%的白种人中观察到这种基因型。ACTN3 R577X多态性先前在一些（但不是全部）研究中与身体表现指标相关。我们在Genathlete研究中检测了R577X （rs1815739）和ACTN3基因（rs1791690和rs2275998）的另外两个单倍型标记单核苷酸多态性（htsnp）的流行率，该研究包括316名男性优秀耐力运动员([Vdot]O(2max) 79.0 +/- 3.5ml.kg(-1).min(-1)；来自北美、芬兰和德国的平均+/- s)和304名久坐对照组([Vdot]O（2max) 40.1 +/- 7.0mlkg(-1)）。最小（-1）)与原产国匹配。两组间基因型和等位基因频率分布采用Pearson卡方检验和/或Fischer精确检验。577X纯合子基因型在耐力运动员和对照组中的患病率相似（分别为20%和17.5%）。与577r等位基因携带者相比，577X纯合子的耐力表现优势比为1.24 （95%CI 0.82-1.87， P=0.3）。两种htsnp的基因型分布和单倍型频率在运动员和对照组之间无显著差异。总之，我们的研究结果表明，ACTN3 R577X和ACTN3中的其他snp不是高加索男性耐力表现的遗传决定因素。
Homozygosity for a premature stop codon at amino acid position 577 in the alpha-actinin-3 (ACTN3) gene leads to -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 ([Vdot]O(2max) 79.0 +/- 3.5ml.kg(-1).min(-1); mean +/- s) from North America, Finland, and Germany and 304 sedentary controls ([Vdot]O(2max) 40.1 +/- 7.0mlkg(-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.