Objective: Increased level of plasma homocysteine (Hcy) is a potential risk factor for several multi-system diseases. The Methylenetetrahydrofolate reductase (MTHFR) gene C677T variant has been established as an important genetic determinant of hyperhomocysteinemia. There are conflicting reports about the effects of physical activity on plasma Hcy. Therefore, the main aim of this study was to investigate whether the MTHFR C677T variant affects the elite athletic performance. Methods: This study was carried out on 214 individuals (114 elite athletes and 100 sedentary controls). Genotyping was performed using PCR- RFLP method. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of association. Results: There was a significant difference between the athletes and the control group in genotype distribution and allele frequency of the MTHFR C677T variant. MTHFR C677T CC genotype and C allele were more prevalent in elite athletes than those in the sedentary controls (p =0.007, OR: 2.16, 95%:1.26-3.70; p=0.009, OR: 1.84, 95%:1.18-2.89, respectively). The control group had a higher MTHFR C677T CT genotype than the athletes had (p=0.019, OR: 0.51, 95%:0.30-0.88). There was no deviation from HWE for the MTHFR C677T variant in the groups. Conclusion: Our findings support that there is an association between the MTHFR C677T C allele and athletic performance among the elite Turkish athletes.

Purpose:: The aim of this study was to evaluate whether the VNTR intron 4b/4a variant in the eNOS gene is associated with type 2 diabetes mellitus (T2DM) and DPN. Methods:: A total of 598 subjects were enrolled into the study. eNOS VNTR 4b/4a variant was genotyped by polymerase chain reaction (PCR) method. Results:: eNOS VNTR intron 4b/4b genotype and b allele increased in patients with both DPN and T2DM compared healthy controls (p=0.0005, OR:1.94, p= 0.000002, OR:4.10, respectively). 4a/4b genotype was more prevalent in controls than in DPN and T2DM patients (p=0.00008, OR:0.46; p=0.000004, OR:0.24, respectively). eNOS VNTR b allele was more common in DPN patients and T2DM patients compared with controls (p=0.007, p=0.00002, respectively). Conclusion:: The eNOS VNTR “4b/4b” homozygous genotype and hence "4b"allele as genetic risk factor for T2DM and DPN, which may serve as a useful marker of increased susceptibility to the risk of these disorders.

Background Multiple sclerosis (MS) is an inflammatory immune-mediated demyelinating disease which characterized a challenging and disabling condition. It is known that environmental and genetic factors play a role in directing the disease state. Recent studies have shown that nuclear cofactor genes may play a role in the MS pathogenesis. NCOA5 is a nuclear receptor coactivator independent of AF2 that modulate ERa-mediated transcription. NCOA5 gene is also involved in the pathogenesis of various diseases such as psoriasis, Behçet's disease and cancer.Methods and Results We were investigated the relationship between the NCOA5 gene rs2903908 polymorphism and MS disease on 157 unrelated MS patients and 160 healthy controls by RT-PCR. The frequency of CC, CT, and TT genotypes was 19.87%, 37.82%, and 42.31% for the MS group while 5.63%, 43.75%, and 50.62% control group, respectively. In the obtained results, CC genotype and C allele were found to be significantly higher in the patient group (p = 0.0002 and 0.003, respectively). In particular, the fact that the CC genotype was found to be significantly higher in the patient group compared to the control group (p = 0.0002) and that it had a statistically significantly higher OR value (OR,95%CI = 4.16, 1.91–9.05) suggests that the C allele may recessively predispose to the MS disease for this polymorphism.Conclusions These results suggest for the first time in the literature that, the NCOA5 gene may have an effect on the occurrence MS disease through different molecular pathways which discussed in the manuscript.

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Purpose: Infertility is the situation in which pregnancy cannot be achieved despite unprotected sexual intercourse within at least one year. Male infertility can range from the entire absence of spermatozoa in the testicles (azoospermia) to noticeable variations in sperm quality. The patients with a mutation in the leptin (LEP) gene have been reported to be infertile and the patients with a mutation in the Leptin Receptor (LEPR) gene were shown to lack pubertal development. This study was performed to state if there is a relationship between azoospermic male infertility and LEP gene -2548G>A and LEPR gene Q223R polymorphisms. Materials and Methods: One hundred thirty-seven azoospermic infertile men and a hundred fertile men were included in this study. DNAs obtained from peripheral blood of participants were analyzed by polymerase chain reaction (PCR) along with restriction fragment length polymorphism (RFLP) technics.. Results: In terms of LEP -2548G>A (rs7799039) and LEPR Q223R (rs1137101) polymorphisms, no statistically remarkable distinction was observed in the genotype and allele distributions of azoospermic infertile and fertile men. In the composite genotype analysis, it was determined that the GGQR composite genotype was approximately 9 times more common in azoospermic infertile men than in fertile men (8.8% vs. 1.0%). Conclusion: It has been determined that LEP -2548G>A and LEPR Q223R polymorphisms may have a dual effect in azoospermic male infertility. We believe that more efficient and precise results can be obtained by conducting these studies in larger populations.