| Abstrakt: |
Several studies have concluded that the ACTN3 R577X polymorphism is a positive gene marker for physical performance. This study aims to explore the feasibility of using R577X as a marker for identifying elite crosscountry skiers. Method;PCR-RFLP and TOF were used to determine the genotype of R577X. 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 perfor- mance categories. Haploview4.1 and GETX database were used to interpret the function of the positive genotype of R577X, 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 R577X 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 R577X were revealed in HaploRegv4.1. The binding of transcription activators AP-1, ERalpha-A and LXR to specific DNA region was affected by R577X, thus the gene transcription was different; R577X was highly linked to rsl 127894 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; R577X 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. [ABSTRACT FROM AUTHOR] |
