Association of COL12A1 rs970547 Polymorphism with Elite Athlete Status

Abstract

The role of genetics, as an intrinsic factor, in research of sports performance increases with every passing year. The polymorphism rs970547 of the COL12A1 gene is one of the most promising genetic markers linked to soft-tissue injuries. This study aimed to investigate whether COL12A1 rs970547 genotypes are associated with elite Lithuanian athletes from high-risk various sports, such as running, throwing, jumping, and football. The study involved 293 Lithuanian elite athletes and 287 healthy untrained individuals from the Lithuanian population. The results of this study suggest that the rs970547 T allele and TT genotype were significantly over-represented in the total athlete group compared to controls (p < 0.05). There was a significantly lower C allele frequency in the sprint/power group (16.9%) as well as in footballers (19.4%) compared to controls (33.3%, p < 0.05). Positive selection analysis results showed that the derived allele experiences selection pressure within the general population of Lithuanians. Taken together, the findings of this study suggested that COL12A1 rs970547 (T allele and TT genotype) is associated with elite athlete status, especially with sprint/power athlete and footballer`s performance. However, larger-scale studies within different ethnic backgrounds are still warranted to confirm the findings of our study.

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

“…According to findings from recent studies conducted in the field of sports genetics, the genetic background of an individual athlete has a substantial influence on their athletic performance [2]. These studies suggest that the training and physiological fitness levels of athletes may be limited by their genetic capacities and that genetic factors must be considered to achieve the optimal performance levels [5]. For example, the genetic profile of athletes can be a key factor in defining their potential physiological abilities and how these abilities can be enhanced, the strategies they can employ to optimize their circulatory system using certain nutrients, and the approaches they can adopt to assess their non-impact injury risk [6].…”

Genes and Athletic Performance: The 2023 Update

“…For example, combat athletes are more likely than untrained subjects to have the warrior ( COMT rs4680 GG) genotype [ 85 ], whilst chess players demonstrate an increased frequency of an allele linked to improved memory and spatial ability ( KIBRA rs17070145 T) [ 86 ]. Such discoveries demonstrate the broadening nature of sports genomics in recent times, with focus expanding from the traditional domain of investigating what makes elite performers different from the general population into other domains, such as sports nutrigenetics [ 87 , 88 , 89 , 90 , 91 , 92 , 93 , 94 , 95 , 96 , 97 , 98 , 99 , 100 ] and areas of sports medicine, such as genomic variants associated with soft-tissue injuries and sports-related concussion [ 101 , 102 , 103 , 104 , 105 , 106 , 107 , 108 , 109 , 110 , 111 , 112 , 113 , 114 ].…”