Genetic Profile in Genes Associated with Sports Injuries in Elite Endurance Athletes

Abstract

Injuries are a complex trait that can stem from the interaction of several genes. The aim of this research was to examine the relationship between muscle performance-related genes and overuse injury risk in elite endurance athletes, and to examine the feasibility of determining a total genotype score that significantly correlates with injury. A cohort of 100 elite endurance athletes (50 male and 50 female) was selected. AMPD1 (rs17602729), ACE (rs4646994), ACTN3 (rs1815739), CKM (rs8111989) and MLCK ([rs2849757] and [rs2700352]) polymorphisms was genotyped by using real-time polymerase chain reaction (real time-PCR). Injury characteristics during the athletic season were classified following the Consensus Statement for injuries evaluation. The mean total genotype score (TGS) in non-injured athletes (68.263±13.197 arbitrary units [a.u.]) were different from that of injured athletes (50.037±17.293 a.u., p<0.001). The distribution of allelic frequencies in the AMPD1 polymorphism was also different between non-injured and injured athletes (p<0.001). There was a TGS cut-off point (59.085 a.u.) to discriminate non-injured from injured athletes with an Odds Ratio of 7.400 (95%CI 2.548-21.495, p<0.001). TGS analysis appears to correlate with elite endurance athletes at higher risk for injury. Further study may help to develop this as one potential tool to help predict injury risk in this population.

Genetic profile in genes associated with muscle injuries and injury etiology in professional soccer players

“…Previous research has focused on several genes and their influence in the response to physical training and predisposition to soccer-related injuries, especially in ACTN3 ( Coelho et al, 2018 ; Clos, Pruna, Lundblad, Artells and Esquirol Caussa 2019 ; Massidda, Voisin, Culigioni, Piras, Cugia, Yan, Eynon and Calò 2019 ; Clos et al, 2021 ) and ACE polymorphisms ( Massidda, Miyamoto-Mikami, Kumagai, Ikeda, Shimasaki, Yoshimura, Cugia, Piras, Scorcu, Kikuchi, Calò and Fuku 2020 ; McAuley et al, 2021b ; Wei 2021 ). Identification of genetic markers associated with the regulation of energy metabolism in skeletal muscles can help sports physicians and coaches develop personalized strategies to adapt the training protocols according to this professional soccer player’s genetic profile presented ( Varillas-Delgado et al, 2022b ).…”

“…Therefore, it would be interesting to extend this knowledge through the study of the combined influence of several genes/polymorphisms on injury risk in the same pool of athletes ( Pitsiladis et al, 2016 ). In this sense, the knowledge of several DNA variants associated to injury may help to identify individuals with a greater predisposition to injury ( Varillas-Delgado et al, 2021b ).…”

Genetic profiles to identify talents in elite endurance athletes and professional football players

“…Although excellent muscle performance in endurance sports is facilitated by an optimal polygenic profile in several key polymorphisms by muscle fibres, elasticity and metabolism [5,24,70,71], this analysis indicates that the influence of these five genes is strong enough to discriminate this profile and the risk of muscle injuries [40]. The most protectives polymorphisms for muscle injuries in professional athletes compared to the non-athlete population were those in the ACE, AMPD1 and MLCK (Table 4).…”

“…Several polymorphisms have been associated with muscle injury risk [40]; the creatine kinase isoenzyme MM (CKM) gene encodes the cytosolic muscle isoform of creatine kinase responsible for the rapid regeneration of ATP during intensive muscle contraction. The c. � 800A>G (rs8111989) polymorphism plays a vital role in the energy homeostasis of muscle cells [41].…”

“…Subjects with the T allele have diminished exercise capacity and cardiorespiratory responses to exercise in the sedentary state compared to C allele carriers [23,44]. The TT genotype is associated to metabolic myopathy, with exercise-induced muscle symptoms such as early fatigue, cramps and/or myalgia which are related to the risk of muscle injury [40,45], especially in football [46]. The ACTN3 gene has been associated with strength in successful sprinters or track cyclists.…”