Exome-Wide Association Study of Competitive Performance in Elite Athletes
| Autor: | Celal Bulgay, Anıl Kasakolu, Hasan Hüseyin Kazan, Raluca Mijaica, Erdal Zorba, Onur Akman, Isık Bayraktar, Rıdvan Ekmekci, Seyrani Koncagul, Korkut Ulucan, Ekaterina A. Semenova, Andrey K. Larin, Nikolay A. Kulemin, Edward V. Generozov, Lorand Balint, Georgian Badicu, Ildus I. Ahmetov, Mehmet Ali Ergun |
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| Přispěvatelé: | Bulgay C., Kasakolu A., Kazan H. H., Mijaica R., ZORBA E., Akman O., Bayraktar I., Ekmekci R., KONCAGÜL S., ULUCAN K., et al. |
| Rok vydání: | 2023 |
| Předmět: |
GENETİK VE KALITIM
Life Sciences (LIFE) athletics Molecular Biology and Genetics Sağlık Bilimleri athletic performance track and field athletes aerobic capacity muscle hypertrophy sports genetics WES EWAS GWAS Endurance Tıbbi Genetik Yaşam Bilimleri Health Sciences Genetics Genetik GENETICS & HEREDITY Moleküler Biyoloji ve Genetik Genetics (clinical) Internal Medicine Sciences Temel Bilimler Life Sciences Dahili Tıp Bilimleri Tıp MOLECULAR BIOLOGY & GENETICS Phenotypes Yaşam Bilimleri (LIFE) Genetik (klinik) Medicine Muscle Natural Sciences Medical Genetics |
| Zdroj: | Genes; Volume 14; Issue 3; Pages: 660 |
| ISSN: | 2073-4425 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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