Association Between the ACTN3 R577X Polymorphism and Female Endurance Athletes in China

Abstract

The α-actinin 3 (ACTN3) gene is absent in 18% of healthy white individuals owing to homozygosity for a premature stop codon polymorphism (rs1815739) and is only expressed in the Z line of fast glycolytic muscle fibres. Previous studies have shown highly significant association between ACTN3 genotype and sprint/power performance, while the nonfunctional allele (577X) was believed to provide an advantage for endurance performance. In this study we tested whether XX genotype was over-represented in Chinese endurance athletes compared to the general population. In a study of 250 Chinese endurance athletes of provincial or national competitive standard and 450 controls, we proved that the ACTN3 XX genotype (21.2 vs. 15.8%; P=0.02) and X allele (51.3 vs. 41.1%; P=0.019) were significantly over-represented in female endurance athletes compared to controls, while no genotype-related differences were observed in male endurance athletes. Besides, the frequency of the ACTN3 XX genotype (28.6%) was the highest in a group of highly elite athletes compared with other groups, which supported the hypothesis that the absence of α-actinin-3 provided some sort of advantage for endurance athletes. Our results indicated that ACTN3 R577X polymorphism was associated with endurance performance in female athletes but not male athletes in China.

Key words

α-actinin-3 - genotype - Chinese - endurance performance

References

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