TTN Variants Are Associated with Physical Performance and Provide Potential Markers for Sport-Related Phenotypes

Abstract

TTN encodes the third myofilament, titin, which plays structural, mechanical, regulatory, and developmental roles in sarcomeres. The aim of this research was to determine the interaction between novel and previously described TTN variants and athletic performance, as well as competition level, in Caucasians. Firstly, 100 athletes and 47 controls were recruited, and whole-genome sequencing was performed. Secondly, 348 athletes (108 endurance, 100 sprint/power, 140 mixed-sport athletes) and 403 volunteers were included, and real-time PCR was performed. We found a significant overrepresentation of the rs10497520 CT and TT genotypes in the sprint/power athlete group (95% CI, 1.41–3.66, p = 0.0013). The rs10497520 T carriers were 2.17 times more likely to become sprint/power athletes (95% CI 1.35–3.49, p = 0.0021). We also found that the likelihood of having the TT genotype was higher for the highly elite and sub-elite sprint/power athletes. Possessing at least one TAA (rs10497520, rs55837610, rs72648256) haplotype resulted in an increase in the log-odds ratio by 0.80 (p = 0.0015), 1.42 (p = 0.003), and 0.77 (p = 0.044) for all, highly elite, and sub-elite sprint/power athletes, respectively. We demonstrated that harbouring the rs10497520 T allele, individually and in a haplotype combination, increased the chance of being an elite sprint/power athlete, indicating that this allele may be favourable for sprint/power performance.

The AMPD1 Gene’s rs17602729 Polymorphism and Athletic Performance in Track and Field Athletes

“…It has been reported that specific polymorphisms in these genes may be associated with the type of sport parameters affected and the performance of athletes. Similar association studies have been conducted and reported in different populations and for diverse genes and sports disciplines [1,[11][12][13][14]. Considering this information, the impact of genetic factors on athletic performance holds significant importance in the development of training programs and in maximizing athletes' physical and physiological potential.…”