Key result
Whole-exome sequencing identified no variants at exome-wide significance, but functional variants in SIRT1, NUP210, TRPM2, and AGRN were nominally associated with elite athlete status and VO2max.
Why the study?
The study aimed to identify genetic variants linked to personal best scores in Turkish track and field athletes and compare allelic frequencies across athlete types and controls.
Case-Control (n=1,212)
Yes
Whole-exome sequencing identified novel genetic markers (SIRT1, NUP210, TRPM2, AGRN) nominally associated with exercise and sport-related phenotypes such as VO2max and muscle fiber composition in elite athletes.
Novel variants associated with Turkish athlete performance are hypothesis-generating; leaves open validation in larger, diverse cohorts before any translational use.
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.
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Bulğay et al. (2023) conducted a case-control in Competitive Performance in Elite Athletes (n=1,212). Genetic variants (SIRT1, NUP210, TRPM2, AGRN) vs. Controls and alternate athlete groups (sprint/power vs endurance) was evaluated on Exome-wide significant SNPs associated with personal best scores and athlete status. Whole-exome sequencing identified no variants at exome-wide significance, but functional variants in SIRT1, NUP210, TRPM2, and AGRN were nominally associated with elite athlete status and VO2max.
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