Several studies have focused on the impaired role of endothelial nitric oxide synthase (NOS3) gene polymorphism and its association to erectile dysfunction (ED). However, currently controversial results have been reported due to their significant heterogeneity. The present study aimed to assess the genotypic distribution and the allelic frequency of Intron 4 VNTR and Glu298Asp gene polymorphisms in vasculogenic ED patients compared to healthy controls of a specific region of Turkey. A total of 75 patients with ED (median age: 56, IQR:10.5) and 75 healthy controls (median age: 56, IQR:10.5) were prospectively analyzed. All subjects were equally evaluated by the same physician with detailed history-taking, physical examination, International Index of Erectile Function (IIEF) questionnaire, and blood tests (incl. glucose, testosterone, triglyceride and total cholesterol level). Those with an IIEF score under 26 were considered to have ED, by classifying them according to their scores as mild (22–25), moderate (11–21) and severe (1–10) ED. Color doppler ultrasonography was carried out in patients with an IIEF score <22. Hypertension, diabetes mellitus, coronary artery disease, and smoking status were significantly associated with the ED group compared to control subjects with p values of <0.001, <0.001, 0.002 and <0.001, respectively. Overall genotype frequencies was 47 (31%) a/a, 22 (15%) a/b, 82 (55%) b/b for Intron 4 VNTR and 56 (37%) GG, 78 (52%) GT, 16 (11%) TT for the Glu298Asp polymorphism. The frequencies of Intron 4 VNTR a/a allele and Glu298Asp GT allele were associated with severe ED, while a/b and TT were associated with moderate or mild, and b/b and GG were associated with no ED. In contrast to Glu298Asp, statistically significant differences in genotypic frequencies of Intron 4 VNTR gene polymorphism between ED and control subjects was established.

Abbreviations: NO: nitric oxide, NOS: nitric oxide synthase, NOS3: endothelial nitric oxide synthase, NOS2: inducible nitric oxide synthase, NOS1: neuronal nitric oxide synthase, HT: hypertension, DM: diabetes mellitus, CAD: coronary artery disease, ED: erectile dysfunction, IIEF: international index of erectile function, VNTR: variable number of tandem repeats, CDU: color doppler ultrasonography, PCR: polymerase chain reaction.

几项研究集中于内皮一氧化氮合酶（NOS3）基因多态性受损的作用及其与勃起功能障碍（ED）的关联。然而，由于其显着的异质性，目前已报道了有争议的结果。本研究旨在评估与特定地区健康对照相比，血管生成性ED患者的Intron 4 VNTR和Glu298Asp基因多态性的基因型分布和等位基因频率。前瞻性分析了75例ED患者（中位年龄：56，IQR：10.5）和75名健康对照（中位年龄：56，IQR：10.5）。由同一位医生对所有受试者进行平均评估，包括详细的病史记录，体格检查，国际勃起功能指数（IIEF）问卷和血液检查（包括葡萄糖，睾丸激素，甘油三酸酯和总胆固醇水平）。IIEF得分低于26的患者通过将其分为轻度（22–25），中度（11–21）和重度（1–10）ED来分类为ED。IIEF得分<22的患者进行了彩色多普勒超声检查。与对照组相比，ED组的高血压，糖尿病，冠状动脉疾病和吸烟状况显着相关，p值分别<0.001，<0.001、0.002和<0.001。内含子4 VNTR的总基因型频率为47（31％）a / a，22（15％）a / b，82（55％）b / b和56（37％）GG，78（52％）GT，16 （11％）Glu298Asp多态性的TT。Intron 4 VNTR a / a等位基因和Glu298Asp GT等位基因的频率与重度ED相关，而a / b和TT与中度或轻度相关，b / b和GG与无ED相关。与Glu298Asp相反，在ED和对照组之间建立了Intron 4 VNTR基因多态性的基因型频率的统计学显着差异。

缩写： NO：一氧化氮，NOS：一氧化氮合酶，NOS3：内皮型一氧化氮合酶，NOS2：诱导型一氧化氮合酶，NOS1：神经型一氧化氮合酶，HT：高血压，DM：糖尿病，CAD：冠状动脉疾病，ED ：勃起功能障碍，IIEF：国际勃起功能指数，VNTR：可变的串联重复数，CDU：彩色多普勒超声检查，PCR：聚合酶链反应。