Exome-Wide Association Study of Competitive Performance in Elite Athletes

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dc.authoridAhmetov, Ildus/0000-0002-6335-4020
dc.authoridKasakolu, Anil/0000-0003-3168-7610
dc.authoridLarin, Andrey/0000-0002-9429-792X
dc.authoridBayraktar, Isik/0000-0003-1001-5348
dc.authoridBadicu, Georgian/0000-0003-4100-8765
dc.authoridakman, onur/0000-0001-5157-7430
dc.authoridSemenova, Ekaterina/0000-0003-1248-2855
dc.contributor.authorBulgay, Celal
dc.contributor.authorKasakolu, Anil
dc.contributor.authorKazan, Hasan Hueseyin
dc.contributor.authorMijaica, Raluca
dc.contributor.authorZorba, Erdal
dc.contributor.authorAkman, Onur
dc.contributor.authorBayraktar, Isik
dc.date.accessioned2024-10-04T18:50:59Z
dc.date.available2024-10-04T18:50:59Z
dc.date.issued2023
dc.departmentBayburt Üniversitesien_US
dc.description.abstractThe 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 x 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.en_US
dc.description.sponsorshipGazi University Rectorate (Scientific Research Projects Coordination's Unit) [TCD-2021-7116]en_US
dc.description.sponsorshipThis research received no external funding.en_US
dc.identifier.doi10.3390/genes14030660
dc.identifier.issn2073-4425
dc.identifier.issue3en_US
dc.identifier.pmid36980932en_US
dc.identifier.scopus2-s2.0-85151112324en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.3390/genes14030660
dc.identifier.urihttp://hdl.handle.net/20.500.12403/3301
dc.identifier.volume14en_US
dc.identifier.wosWOS:000955510900001en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMdpien_US
dc.relation.ispartofGenesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectathletic performanceen_US
dc.subjectathleticsen_US
dc.subjecttrack and fielden_US
dc.subjectathletesen_US
dc.subjectaerobic capacityen_US
dc.subjectmuscle hypertrophyen_US
dc.subjectsports geneticsen_US
dc.subjectWESen_US
dc.subjectEWASen_US
dc.subjectGWASen_US
dc.titleExome-Wide Association Study of Competitive Performance in Elite Athletesen_US
dc.typeArticleen_US

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