Polymorphisms in Turkish population

Abstract

Context: There are controversial results and insufficient knowledge in the literature about the genetics of diabetes mellitus complications in the Turkish population and endothelial nitric oxide synthase (eNOS) gene polymorphisms may act as a potential modifier of diabetic vascular complications. Objective: The objective of this study was to determine the association between eNOS G894T polymorphisms and diabetes-related diseases. Design: A Turkish case-control study was designed. Setting: The study was carried out in the Ankara University Hospital. Patients or Other Participants: Totally, 97 Turkish patients with diabetic foot ulcers and 102 controls were enrolled. Patients who had not received antimicrobial treatment in the preceding 6 months were included. Diabetic patients with hand and/or foot ulcers resulting from major trauma, such as road traffic accidents, were excluded. Main Outcome Measure: The effect of eNOS gene polymorphisms on diabetic complications and comorbid diseases was measured. Results: Regarding eNOS G894T gene polymorphisms, 47.4% of the patients had GG (n = 46), 47.4% (n = 46) had GT, and 5.2% (n = 5) had TT alleles in the diabetes mellitus group, and 47.0% (n = 48), 41.2% (n = 42), and 11.8% (n = 12) had GG, GT, and TT alleles in the control group, respectively. There was no significant difference between the groups regarding the eNOS G894T gene allele ratios. Between groups with and without diabetic complications, a significant difference has only been found in the distribution of alleles in patients with comorbid atherosclerotic heart disease, whose GT-TT alleles were significantly higher than the GG alleles (p = 0.004). Conclusion: G894T polymorphism of eNOS gene was not associated with foot ulcer and diabetic complications, except in the presence of atherosclerotic heart disease.

OBJECTIVE: Endometriosis is a chronic gynecological disease characterized by the growth of hormonally responsive, endometrial tissue outside the uterine cavity. The present study aims to analyze two vascular endothelial growth factor (VEGF) polymorphisms (-460 C/T and +405 C/G) in Turkish women with and without endometriosis. STUDY DESIGN: A case-control study was undertaken at the Infertility Department of Zekai Tahir Burak Women’s Health Care Education and Research Hospital. The single nucleotide polymorphisms, -460 C/T and +405 C/G, in the 5′-untranslated region of the VEGF gene were tested in 98 affected women and 94 women with no laparoscopic evidence of disease. Endometriosis was also confirmed histologically. Following genomic extraction of genomic DNA, genotyping of the -460 C/T and +405 C/G polymorphisms of the VEGF gene were performed by polymerase chain reaction and restriction fragment length polymorphism assay. Nominal data were evaluated by Pearson Chi-square or Fisher’s Exact test, where applicable. Odds ratios and 95% confidence intervals were also calculated. A P value less than 0.05 was considered statistically significant. RESULTS: Demographic data were similar among groups. The genotype and allele frequencies of the -460 C/T polymorphism did not differ significantly between cases and controls. In contrast, the genotype (P < 0.001) and allele frequencies (P < 0.001) of +405 C/G polymorphism showed a significant difference between cases and controls. Regardless of the early or advanced stage, women with endometriosis showed a higher incidence of the +405 GC genotype and +405G allele when compared with the controls. CONCLUSIONS: These data suggest that VEGF +405 GC genotype and +405G allele may be associated with the risk of developing early and advanced stage endometriosis in the Turkish population.