PURPOSE:Diabetic neuropathy (DN) is a serious complication of diabetes that affects peripheral and autonomic nerves, and it has been linked to irregularities in circadian rhythm. Several studies have demonstrated that disruptions in circadian rhythm and changes in expression of rhythm genes may play a role in the development and progression of diabetes, including the development of DN.METHODS:In this study, the association between the VNTR polymorphism of the PER3 gene and diabetic neuropathy was investigated. The study included 84 patients with diabetes, 220 patients with diabetic neuropathy, and 218 healthy individuals as the control group.RESULTS:Upon analyzing the data from the study, it was found that there was no significant difference in the PER3 VNTR polymorphism between the diabetic neuropathy patients, diabetes and control groups. However, there was a significant difference observed between the control group and the diabetes group, particularly in terms of the 5/5 genotype and 5 alleles. Moreover, a significant difference was observed between the patient group and the control group (p < 0.05).CONCLUSIONS:In conclusion, first in the world, the relationship between PER3 gene VNTR polymorphism and diabetic neuropathy and diabetes, was investigated. Our results showed that PER3 may be associated with diabetes but not with diabetic neuropathy.

Multiple sclerosis (MS) is an inflammatory immune-mediated demyelinating disease that causes a challenging and disabling condition. Environmental and genetic factors play a role in appearing the state of the disease. Recent studies have shown that nuclear cofactor genes may play a role in the pathogenesis of MS. NCOA5 is a nuclear receptor coactivator independent of AF2 that modulates ERa-mediated transcription. This gene is involved in the pathogenesis of diseases such as psoriasis, Behcet’s disease, and cancer. We investigated the relationship between the rs2903908 polymorphism of the NCOA5 gene and MS among 157 unrelated MS patients and 160 healthy controls by RT-PCR. The frequencies of the CC, CT, and TT genotypes were 19.87

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.

Abstract 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.

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.

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 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 (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 in 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 a genetic risk factor for T2DM and DPN, which may serve as a useful marker of increased susceptibility to the risk of these disorders.

Brucellosis is one of the most common zoonotic diseases caused by Brucella. The disease is located genital organs in the females of mammals such as cattle, sheep, goats, dogs and pigs and cause to infertility, mastitis, preterm birth, placenta retention and metritis; in men it causes orchitis (gonorrhea inflammation). The bacteria can also spread from animals to humans and cause disease in humans. The aim of this study was to determine the prevalence of Brucellosis in milk collected from villages of Tokat province and districts. For this purpose, 161 cows, 58 sheep and 33 goat milk samples were investigated by Brucellosis agent with Milk Ring Test (MRT) and direct sowing method. At the end of the study, 24 of 161 cow's milk, 20 of 58 sheep's milk and 5 of 33 goat's milk were found to be positive by MRT. Of the 252 raw milk samples, 49 (n = 19.41%) were positive for MRT. Brucella melitensis biotype 3 were isolated from the 2 milk samples after the culturing from 49 samples with positive MRT. It was determined that 2 milk samples isolated from Brucea belong to 2 different sheep from the same herd. Thus, Brucella was isolated in 0.79% of all studied samples, 4.08% of MRT positive samples and 3.45% of sheep milk samples. As a result of our first study with milk collected from the villages and towns of Tokat province and districts, 19.41% of the samples were positive for MRT and 0.79% of the samples were isolated by direct planting method. Thus, in this study, it was determined that there is a certain amount of Bruceila agent in Tokat province and its districts and it shows that dairy products may pose a risk for Brucellosis.

Aim: The aim of this study was to determine the IC50 dose of endosulfan in the hippocampal HT22 cell line, and also to elucidate the effect of expression of DNA-PK, Bax, Bcl2 and Casp-3 genes involved in DNA repair and apoptotic pathway. Material and Methods: Cytotoxic effect of endosulfan and IC50 dose were determined by using XTT method after 24 hours of culture by applying endosulfan at 5 different concentrations (10, 25, 50, 75 and 100 μM) to HT22 cell lines. HT22 cells were then seeded into 6 sterile plates and treated with Endosulfan at IC50 for 12 hours. The expression changes of DNA-Pk, Bax, Bcl2 and Casp-3 genes, after total RNA isolation and cDNA formation, were determined by RT-PCR. Expression levels were calculated using the comparative 2 -ΔΔCt method. Results: After 24 hours of endosulfan treatment at different doses in HT22 cell lines, a significant loss of viability was observed in all endosulfan treated groups. It was determined by XTT test, that the IC50 dose of endosulfan was 50 μM in 24 hours treatment. After 12 hours administration of IC50 endosulfan dose in HT22 cells following the examinations of DNA-PK and some apoptotic genes we observed different amounts of increases in expression as follows; 5-fold for DNA-PK, 18-fold for Bax, and 4-fold for Casp-3. On the other hand, approximately 2-fold decrease was detected in Bcl-2 gene. Conclusion: The IC50 dose of 24-hour endosulfan administration in HT22 cell lines was found to be 50 μM. Expression changes in the proapoptotic and antiapoptotic genes have shown that apoptosis is induced in endosulfan-administrated cells. In addition, the increase in DNA-PK gene expression suggests that endosulfan causes DNA damage in cells and triggers DNA repair mechanisms.