Walch Katharina, Kolbus Andrea, Hefler-Frischmuth Katrin
Elisabeth Vytiska-Binstorfer, Johannes Huber, Konstantin Baumühlner, René Wenzl, Fritz Nagele, Lukas Hefler, Austria.
Maturitas. 2008 Nov 20;61(3):256-9. doi: 10.1016/j.maturitas.2008.08.003. Epub 2008 Sep 19.
To investigate the association of two common genetic polymorphisms of the gene encoding for endothelial nitric oxide synthase (Nos3), 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 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 7Nos3 and the intron 4Nos3 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.
研究编码内皮型一氧化氮合酶（Nos3）基因的两种常见基因多态性与多囊卵巢综合征（PCOS）发生之间的关联，该酶催化一氧化氮（NO）的产生。
在一项前瞻性病例对照研究中，我们分别使用焦磷酸测序法和聚合酶链反应（PCR）分析了210名绝经前患有PCOS的白种女性和171名健康对照者中Nos3基因簇的两种多态性（Nos3第7外显子Glu298Asp和Nos3内含子4中的27个碱基对重复序列）。研究对象完成了一份详细问卷，并接受了外周静脉穿刺、超声检查和标准化口服葡萄糖耐量试验（OGTT）。
PCOS患者与对照组之间，第7外显子Nos3和内含子4 Nos3多态性的基因型频率无显著差异（p值分别为0.3和0.2）。
在我们的研究系列中，Nos3基因簇的两种常见多态性与PCOS的发生无关。
