PPARA and IL6: exploring associations with athletic performance and genotype polymorphism.

This study aims to investigate the Interleukin (IL)-6 rs1800795 and peroxisome proliferator-activated receptor alpha (PPARA) rs4253778 polymorphism distributions in the relatively faster and slower subgroups of national cross-country skiing athletes and to identify advantageous genotypes for endurance performance. IL-6 is an inflammatory mediator that is effective in muscle tissue hypertrophy, repair, and the immune system. On the other hand, PPARA transcription factor is a molecule associated with fatty acid, sugar metabolism and inflammation formation. Total of 30 professional cross-country skiing athletes were examined in three groups as athletes, female athletes, and male athletes. DNA of the participants were isolated from blood and genetic polymorphisms were determined by RT-PCR. Athletes were divided into two subgroups as faster and slower referring to their "1-kilometer cross-country skiing time averages (CCSTA)". Polymorphism distributions in these subgroups were analyzed statistically with Fisher's exact test and descriptive tests. In addition, the 1 km-CCSTA values of the genotypes were determined by descriptive statistical methods and the time advantages were calculated. It was determined that the combination of IL-6 rs1800795 GC and PPARA rs4253778 GG genotypes was observed to be more prominent among the faster categories of cross-country skiing competitors, particularly in the athletes and male athletes categories, and it had a time advantage at 1 km-CCSTA. The GC genotype (p= 0.0098) and C-allele (p=0.0398) of IL-6 rs1800795 polymorphism were detected at a higher rate in the fast subgroup in male athletes. These genotypes may support endurance performance.

Comparison of potential biomarker, ACTN3 rs1815739 polymorphism, for athletic performance of Turkish athletes.

α-Actinin-3 is one of the key components of the Z-line structure of sarcomeres and also have importance in muscle cell signaling processes. Therefore, α-Actinin-3 gene rs1815739 polymorphism is one of the most analysed potential genetic biomarkers in sports genetic studies. We aimed to evaluate the genotypic and allelic distribution of α-Actinin-3 gene rs1815739 polymorphism in Turkish athletes. For this purpose, a total of 131 athletes (39 cyclists, 34 sprinters and distance athletes, 33 volleyball players, 15 bodybuilders and 10 ironmen) and 89 sedentary individuals were enrolled in the study. Genomic DNA from venous blood were isolated by using the PureLink DNA isolation kit by following the manufacturers' instructions. The α-Actinin-3 rs1815739 genotyping was carried out by Real-time PCR using the commercially provided Taqman Genotyping Assay. The statistical evaluations were assessed by the chi-square testing using the GraphPad InStat statistical package. Results showed that cyclists, ironmen and volleyball players showed statistically significant differences in terms of the genotype when compared to the controls. The OR of having the dominant trait (RR genotype vs. RX+XX combined) was 0.5 (95%CI: 0.28-0.91; P= 0.02) which was statistically significant, while the OR of having the recessive trait (XX genotype vs. RR+RX combined) was 3.76 (95%CI: 1.82-7.39; P=0.0002). Our findings indicated that the α-Actinin-3 gene rs1815739 RR genotype was more prevalent in the sprinters and distance athletes. In the bodybuilders, cyclists, and ironmen it was found that they were harboring the RR and RX genotype equally. According to the results, we suggest the α-Actinin-3 rs1815739 as a potential biomarker for personal training programs.