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    Evaluation of Association between PPARGC1A Gene Polymorphism and Competitive Performance of Elite Athletes
    (2022) Bulgay, Celal; Zorba, Erdal; Akman, Onur; Bayraktar, Işık; Kazan, Hasan Hüseyin; Ergün, Mehmet Ali; Ulucan, Korkut
    Limited number of researches exist on the relationship between PPARGC1A gene polymorphism (rs8192678) and affects the athletic performance. Thus, the present study aims to decipher any possible association of the rs8192678 polymorphism in the PPARGC1A gene with the competitive performances of Turkish elite track and field athletes. A total of 60 elite athletes (31 sprint/power and 29 endurance) and 20 control/sedentary with the ages of 18-35 voluntarily participated in the study. The International Association of Athletics Federations (IAAF) score scale was used to determine the performance levels of the personal best (PB) of the athletes. Whole exome sequencing (WES) was performed by the genomic DNA sample isolated from blood of the participants. The association between rs8192678 polymorphism and PB was examined by one-way analysis of covariance (ANCOVA) with the adjustment of sex and sport experience. According to the results, there were not any significant deviation between the wild-type (G/G), heterozygote (G/A) and homozygote (A/A) genotypes within and between the groups (p>0.05). Our results underlined that there were not any significances for association of rs8192678 polymorphism with PBs within the groups of the sprint/power and endurance athletes. However, it is recommended that similar studies be conducted with more participants to provide clearer information about the research.
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    Evaluation of the Association of VDR rs2228570 Polymorphism with Elite Track and Field Athletes' Competitive Performance
    (Mdpi, 2023) Bulgay, Celal; Bayraktar, Isik; Kazan, Hasan Huseyin; Yildirim, Damla Selin; Zorba, Erdal; Akman, Onur; Ergun, Mehmet Ali
    The present study aimed to examine the vitamin D receptor (VDR), rs2228570 polymorphism, and its effect on elite athletes' performance. A total of 60 elite athletes (31 sprint/power and 29 endurance) and 20 control/ physically inactive, aged 18-35, voluntarily participated in the study. The International Association of Athletics Federations (IAAF) score scale was used to determine the performance levels of the athletes' personal best (PB). Whole exome sequencing (WES) was performed by the genomic DNA isolated from the peripheral blood of the participants. Sports type, sex, and competitive performance were chosen as the parameters to compare within and between the groups by linear regression models. The results showed no statistically significant difference between the CC, TC, and TT genotypes within and between the groups (p > 0.05). Additionally, our results underlined that there were no statistically significant differences for the association of rs2228570 polymorphism with PBs within the groups of the (p > 0.05) athletes. The genetic profile in the selected gene was similar in elite endurance, sprint athletes, and in controls, suggesting that rs2228570 polymorphism does not determine competitive performance in the analyzed athlete cohort.
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    Exome-Wide Association Study of Competitive Performance in Elite Athletes
    (Mdpi, 2023) Bulgay, Celal; Kasakolu, Anil; Kazan, Hasan Hueseyin; Mijaica, Raluca; Zorba, Erdal; Akman, Onur; Bayraktar, Isik
    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 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.