In a prospective case–control study, we analyzed 2 polymorphisms of the Nos3 gene cluster (Nos 3 exon 7 Glu298Asp and 27-base pair repeat in intron 4 of Nos3) in a series of 210 premenopausal Caucasian women with PCOS and 171 healthy controls using pyrosequencing and PCR, respectively. Women completed a detailed questionnaire and underwent a peripheral venous puncture, ultrasonography, and a standardized oral glucose tolerance test (OGTT).
Genotype frequencies were not significantly different among women with PCOS and controls for the exon 7 Nos3 and the intron 4 Nos3 polymorphism (p = 0.3 and 0.2, respectively).
In our series, two common polymorphisms of the Nos3 gene cluster were not associated with occurrence of PCOS.