Athletic performance is a polygenic trait influenced by both environmental and genetic factors.ObjectiveTo investigate individually and in combination the association of common gene polymorphisms with athlete status in Ukrainians.MethodsA total of 210 elite Ukrainian athletes (100 endurance-oriented and 110 power-orientated athletes) and 326 controls were genotyped for ACE I/D, HIF1A Pro582Ser, NOS3 –786 T/C, PPARA intron 7 G/C, PPARG Pro12Ala and PPARGC1B Ala203Pro gene polymorphisms, most of which were previously reported to be associated with athlete status or related intermediate phenotypes in different populations.ResultsPower-oriented athletes exhibited an increased frequency of the HIF1A Ser (16.1 vs. 9.4%, P = 0.034) and NOS3 T alleles (78.3 vs. 66.2%, P = 0.0019) in comparison with controls. Additionally, we found that the frequency of the PPARG Ala allele was significantly higher in power-oriented athletes compared with the endurance-oriented athletes (24.7 vs. 13.5%; P = 0.0076). Next, we determined the total genotype score (TGS, from the accumulated combination of the three polymorphisms, with a maximum value of 100 for the theoretically optimal polygenic score) in athletes and controls. The mean TGS was significantly higher in power-oriented athletes (39.1 ± 2.3 vs. 32.6 ± 1.5; P = 0.0142) than in controls.ConclusionsWe found that the HIF1A Ser, NOS3 T and PPARG Ala alleles were associated with power athlete status in Ukrainians.
BACKGROUNDːObesity is a widespread problem within modern society, serving to increase the risk of cardiovascular, metabolic, and neurodegenerative disorders. Peroxisome proliferator-activated receptor gamma (PPARγ) and PPARγ coactivator 1 α (PGC1α) play a key role in the regulation of cellular energy metabolism and is implicated in the pathology of these diseases. This study examined the association between polymorphisms of the PPARG and PPARGC1A genes and individual variability in weight loss in response to physical activity intervention. METHODS AND RESULTSːThirty-nine obese Ukrainian women (44.4 ± 7.5 years, BMI > 30.0 kg/m 2 ) undertook a 3-month fitness program whilst following a hypocaloric diet (~1500 calories). Anthropometric and biochemical measurements took place before and after the program. Single nucleotide polymorphisms within or near PPARG (n=94) and PPARGC1A (n=138) were identified and expression of PPARG mRNA was measured via reverse transcription and amplification. The association between DNA polymorphisms and exercise-induced weight loss, initial body mass, biochemistry and PPARG expression was determined using one-way analysis of variance (ANOVA).The present intervention induced significant fat loss in all participants (total fat: 40.3±5.3 vs 36.4±5.7%; P<0.00001). Only one polymorphism (rs17650401 C/T) within the PPARGC1A gene was found to be associated with fat loss efficiency after correction for multiple testing, with T allele carriers showing the greatest reduction in body fat percentage (2.5-fold; P=0.00013) compared to non-carriers. CONCLUSIONSː PPARGC1A (rs17650401) is associated with fat loss efficiency of the fitness program in obese women. Further studies are warranted to test whether this variation is associated with fat oxidation.
The aim of this study was to investigate the association between the MCT1 (monocarboxylate transporter 1) A1470T polymorphism and positional roles in a large cohort of professional football players from five different countries. We compared genotype distributions of the MCT1 A1470T polymorphism between football players (n=694) and non-athlete controls (n=781) from Italy, Poland, Lithuania, Ukraine and Malta, and we analyzed the MCT1 genotype distributions with respect to the players’ positions in the field (e. g. forwards, midfielders, defenders and goalkeepers). Genomic DNA was extracted from either buccal epithelium or peripheral blood using a standard protocol. In the pooled cohort of Italian, Polish, Lithuanian and Ukrainian football players, forwards (n=148) were more likely than controls (n=781) to possess the A allele (χ2=7.067, p=0.029, FDR q value 0.116), with a greater likelihood of having the AA genotype compared with the TT genotype (OR=1.97; C.I.=1.07-3.64; p=0.021, FDR q value 0.086). The MCT1 AA genotype was significantly more frequent in forwards then in controls. Further studies are needed to confirm these findings in other professional football player cohorts.
Background: The aim of the study is to define the possibility of usage of the gene eNOS polymorphisms as molecular-genetic markers of athletes' resistance to exercise-induced hypoxia. Material/Methods: 127 highly qualified athletes were examined (30 persons are underwater finswimmers, 41-rowers and 56 sportsmen who practice speed and power track and field exercises). The frequency of promotor polymorphisms and the 7 th exon of the eNOS gene in athletes engaged in finswimming and throwing has been studied. The comparative analysis of the obtained data with the frequency of allel variants of the eNOS gene has been carried out in athletes engaged in speed-power sports and the individuals not going in for sports. To study the influence of polymorphisms of this gene on individual values of resistance to hypoxia, a gas analysis was conducted in the athletes practicing rowing. During the study the eNOS gene expression was examined in athletes practicing short-course underwater finswimming with apneapracticing long distance swimming with a snorkel. Results: The findings are evidence of a possible variant of influence of polymorphism of the eNOS gene on the phenotype formation resistant to exercise-induced hypoxia. Conclusions: In the athletes practicing underwater finswimming, the occurrence of the allelic variant of С/С Т-786 →С promoter polymorphism and Т/Т-variant in exon 7 of the gene of NO-synthase is lower than in the general population of Ukraine and in the athletes of speed and power type of sports, which may be the result of selection and be important for peculiarities of the development of resistance to exercise-induced hypoxia with different types of muscle activity.
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