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Exome-Wide Association Study of Competitive Performance in Elite Athletes
Ist Teil von
Genes, 2023-03, Vol.14 (3), p.660
Ort / Verlag
Switzerland: MDPI AG
Erscheinungsjahr
2023
Link zum Volltext
Quelle
MEDLINE
Beschreibungen/Notizen
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 VO
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 (
< 2.3 × 10
) in genotype-phenotype and case-control studies of Turkish athletes. However, of the 53 nominally (
< 0.05) associated SNPs, four functional variants were replicated. The
rs41299232 G allele was significantly over-represented in Turkish (
= 0.047) and Russian (
= 0.018) endurance athletes compared to sprint/power athletes and was associated with increased VO
(
= 0.037) and a greater proportion of slow-twitch muscle fibers (
= 0.035). The
rs2280084 A allele was significantly over-represented in Turkish (
= 0.044) and Russian (
= 0.012) endurance athletes compared to sprint/power athletes. The
rs1785440 G allele was significantly over-represented in Turkish endurance athletes compared to sprint/power athletes (
= 0.034) and was associated with increased VO
(
= 0.008). The
rs4074992 C allele was significantly over-represented in Turkish sprint/power athletes compared to endurance athletes (
= 0.037) and was associated with a greater CSA of fast-twitch muscle fibers (
= 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.