Effect of TNF-α and IL-1β genetic variants on the development of myocardial infarction in Turkish population.

Tumor necrosis factor-alpha (TNF-alpha) and interleukin 1 beta (IL-1 beta) genetic variants which resulting in TNF-alpha and IL-1 overproduction may increase susceptibility to autoimmune diseases such as atherosclerosis. We have studied the association of TNF-alpha G308A and IL-1 beta (+3953) C/T polymorphism with myocardial infarction in Turkish population. 143 patients with myocardial infarction and 213 age-matched healthy controls were included in the study. In univariant analysis, the frequencies of IL-1 beta, TNF-alpha genotype or allele, and haplotype of C:A and T:A were significantly elevated in patients when compared with those of controls. GA genotype of TNF-alpha, T allele of IL-1 beta and A of TNF-alpha allele seem to be risk factors for myocardial infarction. In contrast, CC genotype of IL-1 beta and GG genotype of TNF-alpha have protective effect against myocardial infarction. In multivariate logistic regression analysis, TNF-alpha A allele, gender and smoking were associated with myocardial infarction. In conclusion, we can state that TNF-alpha A allele might be associated with myocardial infarction

Association of interleukin 1beta gene (+3953) polymorphism and severity of endometriosis in Turkish women

Endometriosis is regarded as a complex trait, in which genetic and environmental factors contribute to the disease phenotype. We investigated whether the interleukin (IL) 1beta (+3953) polymorphism is associated with the severity of endometriosis. Diagnosis of endometriosis was made on the basis of laparoscopic findings. Stage of endometriosis was determined according to the Revised American Fertility Society classification. 118 women were enrolled in the study. 78 women didnot have endometriosis, 6 women had stage I, 3 had stage II, 13 had stage III and 18 had stage IV endometriosis. Polymerase Chain Reaction (PCR), Restriction Fragment Length Polymorphism (RFLP), and agarose gel electrophoresis techniques were used to determine the IL 1beta (+3953) genotype. Frequencies of the IL-1beta (+3953) genotypes in the control group were: CC, 0.397; TT, 0.115; CT, 0.487. Frequencies of the IL-1beta (+3953) genotypes in cases were: CC, 0.375; TT, 0.225; CT, 0.400. We found a 2.22 fold increase in TT genotype in the endometriosis group. However, the difference was not statistically significant (P > 0.05). We also observed an increase in the frequency of IL-1beta (+3953) T allele in the endometriosis group. However, the difference was not statistically significant. We also investigated the association between IL-1beta (+3953) polymorphism and the severity of endometriosis. The frequencies of CC+CT genotypes in stage I, III and IV endometriosis patients were 83.3, 84/6 and 72.2%, respectively; and TT genotypes were 16.7, 15.4 and 27.8%, respectively. We observed a statistically insignificant increase in TT genotype in stage IV endometriosis (P > 0.05). We suggest that IL-1beta (+3953) polymorphism is not associated with endometriosis in Turkish women

Association of Vitamin D Receptor Gene Polymorphisms with Colon Cancer

Objective: In this study, we investigated the association of two vitamin D receptor (VDR) polymorphisms BsmI and TaqI with colon cancer in a Caucasian population. Methods: The VDR gene polymorphisms BsmI and TaqI were detected by polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP)-genotyping assays by using endonucleases BsmI and TaqI, and an agarose gel electrophoresis technique in a series of 43 colon cancer patients and 42 healthy controls. Results: Allele frequencies and genotype distributions were found to be similar in both cases and controls. When homozygous carriers and heterozygotes were combined for each allele, alleles B and T were found to be more common in the control group (p = 0.039, chi(2) = 4.276, odds ratio [OR] = 0.312, 95% confidence interval [CI] = 0.100-0.973 and p = 0.039, chi(2) = 4.258, OR = 0.254, 95% CI = 0.064-1.000, respectively). When genotypes were analyzed as pairs, the Bb/TT variant was higher in the control group at a statistically high significance (p = 0.001, chi(2) = 11.854, OR = 0.122, 95% CI = 0.032-0.460). Conclusion: The alleles B and T and the genotype combination Bb/TT were found to be higher in the control group, and thus BsmI and TaqI polymorphisms of the VDR gene may be possible risk factors for colorectal carcinogenesis

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