ABSTRACT. Atherosclerotic and its cardiovascular complications are responsible for 17.5 million deaths a year, according to the World Health Organization. There is consensus that atherosclerosis involves multiple pathogenic processes initiated by endothelial dysfunction, with inflammation and vascular proliferation determining alterations in the matrix, with consequent formation of the atheromatous plaque and its clinical implications. Risk factors such as hypertension, diabetes mellitus, dyslipidemia, and smoking are widely known. Currently, genotyping, which is not directly related to these factors, is not accepted to estimate the risk of cardiovascular diseases, but strong evidence indicates several polymorphic genes as factors of risk and progression leading to complications of the disease. Among the genes involved, eNOS (endothelial nitric oxide synthase gene), which is responsible for the production of endothelial nitric oxide (an important arterial vasodilator), when presented in polymorphic variation can determine production, malfunction, and predisposition to atherosclerosis. In the present study, we analyzed the G894T polymorphism of the eNOS gene in groups of individuals diagnosed with atherosclerosis and in a control group. We collected 200 blood samples from patients previously diagnosed with atherosclerosis and 100 samples formed the control group. The genotyping analysis for polymorphism of the eNOS gene was determined by PCR. We considered variables such as gender, smoking, smoking history, and alcohol consumption; statistical differences were found in the distribution of case and control groups (P = 0.0378) and in non-smoking patients (P = 0.0263). In the other associations, no statistically significant difference was found. In the population studied, the frequency of the heterozygous genotype (GT) was much higher than in the other populations (GG and TT) in both groups (case and control). The GG genotype showed greater susceptibility to atherosclerosis. Association of the GG genotype in non-smokers also showed greater susceptibility. Gender, alcohol consumption, smoking, and smoking history did not influence atherosclerosis.

Endometriosis is a chronic disease with adverse implications for fertility. We investigated the G894T polymorphism in the endothelial nitric oxide synthase gene in fertile and infertile women with endometriosis. This prospective study included a group of 52 women with a laparoscopic diagnosis of endometriosis. DNA was extracted from blood obtained from 47 patients and analyzed by PCR. The overall cohort was divided into infertile (n = 24) and fertile (n = 23) subgroups and compared in terms of genotypic and allelic frequencies. The genotypic distribution followed Hardy-Weinberg equilibrium ( 2 = 2.21, P = 0.137) and included the GG genotype in 28/47 GT in 14/47, and TT in 5/47 of the samples. Genotypic and allelic frequencies between fertile and infertile women with endometriosis showed that absence of the TT genotype was associated with fertility in endometriosis patients (P = 0.0623). The T ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 18 (2): gmr18201 R.C.P.C. e Silva et al. 2 allele was present in 17 patients of the infertile group and 7 patients of the fertile group (P = 0.025). This allele was significantly associated with infertility (relative risk = 2.21, 95% confidence interval 1.56-3.08) for the recessive model of inheritance. Our findings suggest that women with endometriosis and the G894T polymorphism in the endothelial nitric oxide synthase gene are at increased risk of infertility.