Exome-Wide Association Study of Competitive Performance in Elite Athletes.

The aim of the study was to identify genetic variants associated with personal best scores in Turkish track and field athletes and to compare allelic frequencies between sprint/power and endurance athletes and controls using a whole-exome sequencing (WES) approach, followed by replication studies in independent cohorts. The discovery phase involved 60 elite Turkish athletes (31 sprint/power and 29 endurance) and 20 ethnically matched controls. The replication phase involved 1132 individuals (115 elite Russian sprinters, 373 elite Russian endurance athletes (of which 75 athletes were with VO2max measurements), 209 controls, 148 Russian and 287 Finnish individuals with muscle fiber composition and cross-sectional area (CSA) data). None of the single nucleotide polymorphisms (SNPs) reached an exome-wide significance level (p < 2.3 × 10-7) in genotype-phenotype and case-control studies of Turkish athletes. However, of the 53 nominally (p < 0.05) associated SNPs, four functional variants were replicated. The SIRT1 rs41299232 G allele was significantly over-represented in Turkish (p = 0.047) and Russian (p = 0.018) endurance athletes compared to sprint/power athletes and was associated with increased VO2max (p = 0.037) and a greater proportion of slow-twitch muscle fibers (p = 0.035). The NUP210 rs2280084 A allele was significantly over-represented in Turkish (p = 0.044) and Russian (p = 0.012) endurance athletes compared to sprint/power athletes. The TRPM2 rs1785440 G allele was significantly over-represented in Turkish endurance athletes compared to sprint/power athletes (p = 0.034) and was associated with increased VO2max (p = 0.008). The AGRN rs4074992 C allele was significantly over-represented in Turkish sprint/power athletes compared to endurance athletes (p = 0.037) and was associated with a greater CSA of fast-twitch muscle fibers (p = 0.024). In conclusion, we present the first WES study of athletes showing that this approach can be used to identify novel genetic markers associated with exercise- and sport-related phenotypes.

A model linking sources of stress to approach and avoidance coping styles of Turkish basketball referees.

Purpose of this study was to externally validate and test a conceptual transient model involving six paths that linked sources of acute stress to avoidance and approach coping styles among Turkish basketball referees. The sample consisted of 125 Turkish basketball referees ranging in age from 18 to 36 years (mean = 25.58. σ = 3.69). The path analysis tested the relationships simultaneously from stressors, in consecutive order, distractions, subpar performance and verbal abuse, to coping styles, first both avoidance-cognitive and approach-cognitive, and then approach-behaviour. Results indicated that the model achieved a good fit and that all paths tested simultaneously were significant. The distractions stressor was positively related to subpar performance, which, in turn, was positively related to verbal abuse. Verbal abuse was negatively associated with an avoidance-cognitive coping style and positively related to the approach-cognitive coping style. The results also supported a crossover effect of both avoidance-cognitive and approach-cognitive on approach-behaviour. One implication of this study is that coping should be studied in naturally occurring stages, a process-oriented approach. Another implication is that approach and avoidance coping styles, each sub-divided into cognitive and behavioural categories, provide a meaningful framework which provides sports officials a coherent structure for learning and improving ways to cope with acute stress experienced during the contest.