Polymorphisms in Turkish population

Abstract

Inflammation and genetics play a key role in the pathogenesis of atherosclerosis and its clinical result myocardial infarction (MI). Proinflammatory cytokines, IL-1 and IL-6, have been shown to play essential roles in developmental stages of coronary artery plaque formation. The aim of this study was to determine the association between IL-1 [IL-1RN, IL-1β (-511, +3953)], IL-6 [-174, -572, -597] gene polymorphisms and MI in Turkish population. A total of 402 people were participated; 235 healthy control subjects and 167 MI patients (MI < 40, n: 72; MI > 40, n: 95). Polymerase chain reaction (PCR) was used to determine the genotype of IL-1RN, whereas the genotypes of IL-1β (-511, +3953) and IL-6 (-174, -572, -597) were determined using PCR followed with restriction digestion analysis. There was no significant difference between MI and controls for IL-1RN, IL-1β-511, +3953 (P: 0.875, 0.608, 0.442) and IL-6 -174, -572, -597 (P: 0.977, 0.632, 0.584) gene polymorphisms. Lack of association was observed between MI at younger age (MI < 40) and either IL-1RN VNTR, IL-1β-511, +3953 (P: 0.878, 0.732, 0.978) or IL-6 -174, -572, -597 (P: 0.313, 0.654, 0.552) gene polymorphisms. This study demonstrated that there was not any association between IL-1, IL-6 gene variants and MI in Turkish population. In addition, IL-1 and IL-6 gene polymorphisms did not affect MI at younger age (MI < 40) or older age (MI > 40). Thus, IL-1 and IL-6 single nucleotide polymorphisms may not be a risk factor for susceptibility to MI in Turkish population.

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.