Department of Urology, Trakya University School of Medicine , Edirne , Turkey.
Department of Biophysics, Trakya University School of Medicine , Edirne , Turkey.
Syst Biol Reprod Med. 2019 Oct;65(5):383-389. doi: 10.1080/19396368.2019.1601792. Epub 2019 Apr 12.
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. 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型一氧化氮合酶（NOS3）基因多态性的受损作用及其与勃起功能障碍（ED）的关联。然而，由于其显著的异质性，目前报道的结果存在争议。本研究旨在评估血管性 ED 患者与土耳其特定地区健康对照组相比，其内含子 4 VNTR 和 Glu298Asp 基因多态性的基因型分布和等位基因频率。
总共前瞻性分析了 75 名 ED 患者（中位年龄：56，IQR：10.5）和 75 名健康对照组（中位年龄：56，IQR：10.5）。所有受试者均由同一位医师进行详细的病史询问、体格检查、国际勃起功能指数（IIEF）问卷和血液检查（包括血糖、睾酮、甘油三酯和总胆固醇水平）进行同等评估。根据他们的得分将 IIEF 评分低于 26 的患者分类为轻度（22-25）、中度（11-21）和重度（1-10）ED。那些 IIEF 评分低于 22 的患者进行彩色多普勒超声检查。与对照组相比，高血压、糖尿病、冠心病和吸烟状态与 ED 组显著相关，p 值均<0.001、<0.001、0.002 和<0.001。
内含子 4 VNTR 的总体基因型频率为 47（31%）a/a、22（15%）a/b、82（55%）b/b，Glu298Asp 多态性为 56（37%）GG、78（52%）GT、16（11%）TT。内含子 4 VNTR 的 a/a 等位基因和 Glu298Asp 的 GT 等位基因与重度 ED 相关，而 a/b 和 TT 与中度或轻度 ED 相关，b/b 和 GG 与无 ED 相关。与 Glu298Asp 相比，ED 患者和对照组之间内含子 4 VNTR 基因多态性的基因型频率存在统计学显著差异。
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：神经元型一氧化氮合酶，HT：高血压，DM：糖尿病，CAD：冠心病，ED：勃起功能障碍，IIEF：国际勃起功能指数，VNTR：可变数量串联重复，CDU：彩色多普勒超声，PCR：聚合酶链反应。
