Investigation of variants of critically important antioxidant enzyme genes in patients with polycystic ovary syndrome

Aim: To investigate the possible effects of polymorphisms in genes encoding some important antioxidant enzymes such as super oxide dismutase 2 (SOD2), glutathione peroxidase 1 (GPX1), endothelial NOS (eNOS) and catalase (CAT) in patients with polycystic ovary syndrome (PCOS).Methods: Peripheral blood of 100 patients with PCOS and 100 healthy control group were collected, Polymorphisms in related genes was investigated by using polymerase chain reaction-restriction fragment length polymorphism. In addition, the related biochemical values of the patients were also investigated.Result: In our study there is no significant results for SOD2 gene but the results obtained between GPX1, eNOS and CAT genes were significant. Fasting blood sugar (FBS), insulin, triglyceride, waist circumference and dehydroepiandrosterone sulphate (DHEAS) were found to be significant with the disease, whereas follicle-stimulating hormone (FSH) was found to be effective in preventing the disease.Conclusions: These findings suggest that polymorphisms in genes encoding GPX1, eNOS and CAT enzymes may be associated with PCOS. Additionally, it is thought that the genes of FBS, triglyceride, insulin, DHEAS and waist circumference are important in the pathogenesis of the disease in the presence of homozygous mutation

Associations of Receptor for Advanced Glycation End Products -374 T/A and Gly82 Ser and Peroxisome Proliferator-Activated Receptor Gamma Pro12Ala Polymorphisms in Turkish Coronary Artery Disease Patients

Aim: The aim of the present study was to investigate the individual and combined effects of receptor for advanced glycation end products (RAGE) -374T/A, RAGE Gly82Ser, and peroxisome proliferator-activated receptor gamma (PPAR-gamma) Pro12Ala polymorphisms on the development of coronary artery disease (CAD). Materials and Methods: This study was carried out in 87 patients with CAD and 52 CAD-free healthy controls. Polymerase chain reaction, restriction fragment length polymorphism, and agarose gel electrophoresis techniques were used to determine RAGE -374T/A, RAGE Gly82 Ser, and PPAR-gamma Pro12 Ala. Results: Individual allele and genotype frequencies of RAGE -374T/A, RAGE Gly82Ser, and PPAR-gamma Pro12Ala polymorphisms were not significantly different between study groups. However, compared with the control group, wild-type T allele frequency was found to be higher in patients with diabetes (p = 0.009). To investigate the combined effects of RAGE and PPAR polymorphisms, haplotype analysis was elevated and there was no statistical difference between the haplotypes of RAGE Gly82Ser with RAGE-374T/A or PPAR Pro12Ala. However, the frequency of RAGE-374T/PPAR12Ala haplotype was found to be higher in both the patient group (p = 0.024) and in patients without diabetes (p = 0.037). Conclusion: The results of the present study demonstrated that possessing the A allele of RAGE -374T/A polymorphism by diabetic CAD patients and possessing the-374T/A1a12 haplotype of RAGE -3741/A and PPAR-gamma Pro12 Ala polymorphisms by the patients group were the most important risk factors for CAD

The Effect of GHR/exon-3 Polymorphism and Serum GH, IGF-1 and IGFBP-3 Levels in Diabetes and Coronary Heart Disease

Aim: The present study investigated the effects of growth hormone (GH), insulin-like growth factor-1 (IGF-1), insulin-like growth factor binding protein-3 (IGFBP-3) and GH-receptor (GHR)/exon-3 polymorphism on diabetes mellitus (DM) and coronary heart disease (CHD) patients. Patients and Methods: Ninety patients with CHD, 90 patients with DM and 96 controls were included in this study. The GH, IGF-1 and IGFBP-3 serum levels were measured with enzyme-linked immunosorbent assay. GHR/exon-3 variants were determined by multiplex-polymerase chain reaction. Results: The frequency of all alleles and genotypes in all study groups were distributed according to the Hardy-Weinberg equilibrium. In addition, any association between GHR/exon-3 variants and the presence of risk factors were detected. The blood levels of GH, IGF-1 and IGFBP-3 were not distributed according to GHR/exon-3 variants. However, in the DM group, higher levels of IGF-1 and lower levels of GH and IGFBP-3, and in CHD group lower levels of IGF-1, GH and IGFBP-3 were observed. The order of GH levels were DM<CHD< Controls; IGF-1 levels were CHD<Controls<DM and IGFBP-3 levels were CHD<DM<Controls. Conclusion: No direct effect of GHR/exon-3 polymorphism was observed in DM or CHD patients. However GH, IGF-1, IGFBP-3 and insulin were thought to act together to establish body homeostasis in patients with DM and CHD

Is there any association between GLY82 ser polymorphism of rage gene and Turkish diabetic and non diabetic patients with coronary artery disease?

This study was carried out in 52 non-diabetic, 62 diabetic patients with coronary artery disease (CAD) and 55 controls. A Gly to Ser change RAGE gene was analyzed by PCR-RFLP techniques. GlyGly genotype frequency is higher in non-diabetics versus controls (P Controls > non-diabetics. These results reveals none association between Gly82Ser and the development of disease in non-diabetic patients. In diabetics with Ser allele, higher prevalence of left-ventricule-hypertrophy was observed, but the significant difference between Gly82Ser and left-ventricule-hypertrophy only found in the whole patient group. As a result Ser allele has much more importance in the development of left-ventricule-hypertrophy than other cardiovascular risk factors. In this study we found the presence of Gly allele contributes to the CAD in non-diabetics and Ser allele may contribute to disease in diabetics

Are IVS4 SNPs of OLR1 gene associated with coronary artery disease: Is there a linkage between IVS4 SNPs?

Background. The OLR1 gene has been identified as a candidate gene for coronary artery disease (CAD). Six single-nucleotide polymorphisms (SNPs) of the OLR1 gene located within intron 4 (IVS4-27G>C, IVS4-73C>T, IVS4-14A>G), intron 5 (IVS5-70A>G, IVS5-27G>T) and 3'UTR (188C>T) comprise a linkage disequilibrium (LD) block, which is strongly associated with the elevated risk of CAD