The PPARA gene polymorphism in team sports athletes

Peroxisome proliferator-activated receptor α (PPARα) is a transcription factor that regulates lipid and glucose metabolism. Accumulating evidence suggests that the intron 7 C allele of the PPARA gene rs4253778 G/C polymorphism has an advantage for power-oriented athletes, presumably due to the hypertrophic effects on skeletal muscle and increase in glucose utilization in response to anaerobic exercise. The G allele, however, is said to be favorable for the endurance-oriented athletes. The metabolic demands of team sports involve aerobic and anaerobic energy pathways, as a result of the intermittent physical activity. The aim of the present study was to investigate the association between the PPARA gene polymorphism and team-sport athletic status. A total of 665 Russian athletes from 14 team sports and 1,706 controls were involved in the case-control study. We found that the frequency of the PPARA C allele was significantly higher in athletes compared to controls (20.5 vs. 16.4%, P = 0.0009), suggesting that anaerobic rather than aerobic metabolism may be crucial to the game performance in team sports. This means that our study indicates the association between the PPARA gene G/C polymorphism and team-sport athletic status. Although more replication studies are needed, the preliminary data suggest an opportunity to use the analysis of PPARA polymorphism, along with other gene variations and standard phenotypic assessment in team sports selection

Association of gene polymorphisms with body weight changes in prediabetic patients

Recent research has demonstrated that Type 2 Diabetes (T2D) risk is influenced by a number of common polymorphisms, including MC4R rs17782313, PPARG rs1801282, and TCF7L2 rs7903146. Knowledge of the association between these single nucleotide polymorphisms (SNPs) and body weight changes in different forms of prediabetes treatment is still limited. The aim of this study was to investigate the association of polymorphisms within the MC4R, PPARG, and TCF7L2 genes on the risk of carbohydrate metabolism disorders and body composition changes in overweight or obese patients with early carbohydrate metabolism disorders. From 327 patients, a subgroup of 81 prediabetic female patients (48.7 ± 14.8 years) of Eastern European descent participated in a 3-month study comprised of diet therapy or diet therapy accompanied with metformin treatment. Bioelectrical impedance analysis and genotyping of MC4R rs17782313, PPARG rs1801282, and TCF7L2 rs7903146 polymorphisms were performed. The MC4R CC and TCF7L2 TT genotypes were associated with increased risk of T2D (OR = 1.46, p = 0.05 and OR = 2.47, p = 0.006, respectively). PPARG CC homozygotes experienced increased weight loss; however, no additional improvements were experienced with the addition of metformin. MC4R TT homozygotes who took metformin alongside dietary intervention experienced increased weight loss and reductions in fat mass (p < 0.05). We have shown that the obesity-protective alleles (MC4R T and PPARG C) were positively associated with weight loss efficiency. Furthermore, we confirmed the previous association of the MC4R C and TCF7L2 T alleles with T2D risk. [Abstract copyright: © 2022. The Author(s).

Genome-Wide Association Study of Exercise-Induced Fat Loss Efficiency

There is a wide range of individual variability in the change of body weight in response to exercise, and this variability partly depends on genetic factors. The study aimed to determine DNA polymorphisms associated with fat loss efficiency in untrained women with normal weight in response to a 12-week aerobic training program using the GWAS approach, followed by a cross-sectional study in athletes. The study involved 126 untrained young Polish women (age 21.4 &plusmn; 1.7 years; body mass index (BMI): 21.7 (2.4) kg/m2) and 550 Russian athletes (229 women, age 23.0 &plusmn; 4.1; 321 men, age 23.9 &plusmn; 4.7). We identified one genome-wide significant polymorphism (rs116143768) located in the ACSL1 gene (acyl-CoA synthetase long-chain family member 1, implicated in fatty acid oxidation), with a rare T allele associated with higher fat loss efficiency in Polish women (fat mass decrease: CC genotype (n = 122) &minus;3.8%; CT genotype (n = 4) &minus;31.4%; p = 1.18 &times; 10&minus;9). Furthermore, male athletes with the T allele (n = 7) had significantly lower BMI (22.1 (3.1) vs. 25.3 (4.2) kg/m2, p = 0.046) than subjects with the CC genotype (n = 314). In conclusion, we have shown that the rs116143768 T allele of the ACSL1 gene is associated with higher fat loss efficiency in response to aerobic training in untrained women and lower BMI in physically active men

Genome-wide association study identifies three novel genetic markers associated with elite endurance performance

To investigate the association between multiple single-nucleotide polymorphisms (SNPs), aerobic performance and elite endurance athlete status in Russians. By using GWAS approach, we examined the association between 1,140,419 SNPs and relative maximal oxygen consumption rate (VO 2 max) in 80 international-level Russian endurance athletes (46 males and 34 females). To validate obtained results, we further performed case-control studies by comparing the frequencies of the most significant SNPs (with P <10 -5 -10 -8 ) between 218 endurance athletes and opposite cohorts (192 Russian controls, 1367 European controls, and 230 Russian power athletes). Initially, six ‘endurance alleles’ were identified showing discrete associations with VO 2 max both in males and females. Next, case-control studies resulted in remaining three SNPs ( NFIA-AS2 rs1572312, TSHR rs7144481, RBFOX1 rs7191721) associated with endurance athlete status. The C allele of the most significant SNP, rs1572312, was associated with high values of VO 2 max (males: P =0.0051; females: P =0.0005). Furthermore, the frequency of the rs1572312 C allele was significantly higher in elite endurance athletes (95.5%) in comparison with non-elite endurance athletes (89.8%, P =0.0257), Russian (88.8%, P =0.007) and European (90.6%, P =0.0197) controls and power athletes (86.2%, P =0.0005). The rs1572312 SNP is located on the nuclear factor I A antisense RNA 2 ( NFIA-AS2 ) gene which is supposed to regulate the expression of the NFIA gene (encodes transcription factor involved in activation of erythropoiesis and repression of the granulopoiesis). Our data show that the NFIA-AS2 rs1572312, TSHR rs7144481 and RBFOX1 rs7191721 polymorphisms are associated with aerobic performance and elite endurance athlete status