ACTN3基因R577X位点用于越野滑雪跨界跨项选材的研究

R577X as Gene Marker for Identifying Elite Cross-Country Skiers

目的:研究发现ACTN3基因的R577X多态位点与多个运动项目优秀运动员运动能力存在关联,因此进一步探讨R577X用于越野滑雪跨界跨项选材的可行性。方法:应用飞行时间质谱和PCR-RFLP技术解析ACTN3基因R577X多态位点的基因型。通过case-control关联研究方法,对比R577X在59名健将级以上越野滑雪运动员(非跨界跨项和兼项)和399名普通对照组中等位基因频率和基因型频率分布差异,找出优势基因型。基于HaploRegv4.1在线分析工具和GETx v6数据库验证R577X的生物学功能。使用PLINK软件分析R577X与生化指标的关联性。基因标记结合运动素质用于72名运动员的跨界跨项国家集训队队员选拔。结果:1)优秀运动员和普通人基因型分布结果符合哈温平衡,具有群体代表性。2)优秀运动员的RX和XX基因型都显著高于普通人,X等位基因是越野滑雪运动员的优势基因型。3)ACTN3基因R577X多态位点与铁蛋白、转铁蛋白、CK、BUN存在关联。RR基因型的铁蛋白显著低于XX型;RR基因型的转铁蛋白、CK和BUN显著高于XX型。4)HaploRegv4.1分析发现R577X调控启动子和增强子的组蛋白修饰,影响转录激活因子AP-1,ERalpha-a,LXR与该区域DNA的结合,进而影响基因表达;R577X与rs1127894,rs560556高度连锁,从而影响CTCF,TAF1等转录因子的活性,进而影响下游基因的转录。5)携带X等位基因运动员的成材速度更快。结论:ACTN3基因R577X多态位点是影响ACTN3基因表达的重要位点,可以作为越野滑雪运动员选材用分子标记,携带X等位基因或RX基因型人群更适合从事越野滑雪项目。

Several studies have concluded that the ACTN3 R577 X polymorphism is a positive gene marker for physical performance.This study aims to explore the feasibility of using R577 X as a marker for identifying elite crosscountry skiers.Method:PCR-RFLP and TOF were used to determine the genotype of R577 X.A total of 59 national Cross-Country skiers and 399 ordinary college students volunteered to participate in this study.Chi-squared tests were used to assess the differences in the distribution of RR,RX,and XX genotypes between the different performance categories.Haploview4.1 and GETX database were used to interpret the function of the positive genotype of R577 X,and PLINK1.9 was used for biochemical data statistical analysis.Gene markers combined with athletic qualities were used to identify talented cross-country skiers.Results:1.All genotype distribution matched the H-W equilibrium.2.The distribution of RX and XX genotypes was higher in elite athletes than that in ordinary people,and the X allele was the typical allele of elite cross-country skiers.3.The R577 X polymorphism of the ACTN3 gene was associated with ferritin,transferrin,CK,and BUN.The ferritin of the RR genotype was significantly lower than that of XX;the transferrin,CK and BUN of the RR genotype were significantly higher than those of XX.4.Histone modifications of promoters and enhancers conducted by R577 X were revealed in HaploRegv4.1.The binding of transcription activators AP-1,ERalpha-A and LXR to specific DNA region was affected by R577 X,thus the gene transcription was different;R577 X was highly linked to rs1127894 and rs560556,which affected the activity of transcription factors such as CTCF and TAF1,and then the transcription of downstream genes was affected.5.Higher trainability was found in athletes with the X allele.Conclusion:R577 X affects the gene expression of ACTN3,and can be used as a molecular marker for cross-country skiers.Those with the X allele or RX genotype are more suitable for cross-country skiing.