To investigate the association of genetic polymorphism of the gene encoding for endothelial nitric oxide synthase (NOs3), with occurrence of the polycystic ovary syndrome (PCOS).

PCOS is the most common endocrinopathy, affecting 6-8% women in reproductive age. Hyperandrogenism is associated with chronic anovulation, infertility, hirsutism, increased insulin resistance, type 2 DM, cardiovascular diseases, endometrium and over cancer. To investigate the association of common genetic polymorphism, -786 T/C, of the gene encoding for endothelial nitric oxide synthase (e-NOS), the enzyme catalyzing the production of nitric oxide (NO), with occurrence of the polycystic ovary syndrome (PCOS). In a prospective case–control study, we analyzed polymorphism of the e-NOS gene in a series of 108 premenopausal Turkish women with PCOS and 93 healthy controls. DNA was isolated from the blood sample and genotypes was defined with RT-PCR assay. The overall genotype distrubution of -786 T/C polymorphism in PCOS group 8 (7.4%) patients for CC genotype (homozygotes mutation), 45 (41.6%) patients for CT genotype (heterozygotes mutation), 55 (50.94%) patients for TT genotype (homozygous wild type); in control group 14 (15.05%) patients for CC genotype, 39 (41.94%) patients for CT genotype, 40 (43.01%) patients for TT genotype. Allele frequencies for T and C alleles were 61(28.25%) ve 155(71.75%) in PCOS group; 67(36.02%) ve 119(63.98%) in control group. When we compared the frequency of the at least one T allel carriers (TT+TC) and CC homozygous, no significant assosiation were found (OR:0.45 0.16-1.22; CI95% p:0.8340). The allele frequencies were not significantly different too (OR: 1.43 0.92-2.23; CI 95% p:0.0949).