Study On ACE And ACTN3 Gene Polymorphisms And Athletic Ability

Genetic factors have great effect on sport performance of athletes. The exertion of particular human athletic ability is affected by energy supply characteristics, neuromuscular controlling ability, and body shape peculiarities, etc, presenting great individual discrepancy. All these characteristics are affected more or less by genetic factors. Many research has been done on the relationship of differenct genetic characteristics related to athletic ability and the sensitivity of sports training. Over a hundred of genes and genetic loci related to athletic ability have been identified. The (Insertion/Deletion, I/D) pleomorphism of ACE (angiotensin-convertion enzyme) gene has been associated with endurance performance. Skeletal muscle gene ACTN3(α-actinin-3), has found to be responsible to the explosive force of human muscle in Australian elite athletes,. To study the relationship between Chinese athletes' ACE gene or ACTN3 gene's polymorphism and their athletic ability, we tested 218 Zhejiang professional athletes and 288 random seleted healthy individual as control.Methods ACE I/D genotype were tested through PCR. ACTN3 genotype were analysed through PCR, direct sequencing, and restriction enzyme digestion (RFLP). We classified the professional athletes into two groups: one endurance group of 129 athletes , the other explosive force group with 89 athletes .Results (1) There are no significant ACE genotype or I/D allele frequency differences between the endurance athlete group and the control group. (2) There areno significant ACE genotype or I/D allele frequency differences between the sprint athlete group and the control group. (3) There are no significant ACE genotype or I/D allele frequency differences between the sprint athlete group and the endurance athlete group. (4) There are no significant ACE genotype or I/D allele frequency differences between the elite endurance athlete group and the control group. (5) There are no significant ACTN3 genotype or R/X allele frequency differences between the endurance athlete group and the control group. (6) There are no significant ACTN3 genotype or R/X allele frequency differences between the endurance athlete group and the control group. But there are significant genotype frequency differences between the female subgroup of the endurance athletes and the control (x~2=6.914, P<0.05), and there was strong evidence of R/X allele frequency variation (x~2=5.146, P<0.05). The female subgroup of the endurance athletes have a higher frequency of the XX genotype (24.1% vs 15.7%) and the X allele (60.2.% vs 39.8%) than the female subgroup of the control. (7) There are no significant ACTN3 genotype or R/X allele frequency differences between the sprint athlete group. (8) There are no significant ACTN3 genotype or R/X allele frequency differences between the elite endurance athlete group and the control group.Conclusion (1) According to the result of current study, the I/D polymorphism and genotype of ACE gene have no obvious relationship with the athletic ability of Zhejiang endurance athletes of China, however, the genotype frequency of female endurance athletes is higher than that of the control group; DD genotype frequency is lower, which is probably the ACE gene polymorphism distribution characteristic of Zhejiang endurance athletes of China. (2) In this research, I/D polymorphism frequency distribution of ACE gene in the control group differs greatly from the Occident group. On the basement of I allele and II genotype frequency's high proportion, the particular characteristics of excellent endurance athletes found in Occident research, is probably an additional presentation form. (3) There is not obvious relationship between the ACTN3 gene R577X polymorphism and the athletic ability of Zhejiang sprint athletes of China, however, the genotype proportion and X allele frequency of Zhejiang female endurance athletes of China isobviously higher than that of the control group, from which we presume that allele X may have promote the performance of Zhejiang female endurance athletes of China .