Investigation of the Putative Functional Relevance of the IL-6 3’UTR Genetic Variants with Athletic Phenotype in Turkish Triathletes

Background/aim: Previous research suggests that genetic variants in the IL-6 gene contribute to sport-related traits and athletic performance. We aimed to identify sequence variants in the IL-6 gene region comprising the 3' untranslated region (UTR) in the Turkish triathletes and sedentary individuals and assessed their putative roles in tendency to athletic phenotype. Materials and methods: Sequence variants were identified in the Turkish triathletes (n=47) and sedentary individuals (n=46) by Sanger sequencing. Allele/genotype frequencies and linkage disequilibrium (LD) patterns were calculated by the Haploview program. The functional significance of the detected variants was analyzed using in-silico prediction tools. Results: Four single nucleotide variants (rs13306435, rs747302620, rs2069849, rs13306436) were detected in the total sample by sequencing the target region. Notably, rs13306436-3'UTR/IL-6 was only seen in the triathletes, while the exonic rs747302620 was observed in only sedentary group. Also, rs13306436G>A causes loss/gain sites for binding multiple miRNAs that may be associated with athletic performance. Conclusion: Our findings indicate that the 3'UTR/IL-6 may have functional relevance in determining sports talent. Future comprehensive studies focusing on the IL-6 gene in athletes may pave the way for not only determining the athletic status of the individuals but also have implications for translational medicine.