Department of Clinical Laboratory, First Hospital of Jilin University, Changchun, Jilin, China.
Department of Nephropathy, First Hospital of Jilin University, Changchun, Jilin, China.
Int J Surg. 2018 Jun;54(Pt A):141-148. doi: 10.1016/j.ijsu.2018.04.012. Epub 2018 Apr 11.
Endothelial nitric oxide synthase (eNOS) polymorphisms have been implicated as risk factors for erectile dysfunction (ED), but the results of genetic association studies are inconclusive. We performed a meta-analysis of published studies investigating the association between ED and three eNOS polymorphisms, intron 4 VNTR, G894T and T786C in humans.
The PubMed, Web of Science, CNKI and Google Scholar databases were searched for relevant studies published up to November 2017. Association studies with case-control design were included. For each study with genotype information we calculated odds ratios (OR) and 95% confidence intervals (CI).
The search identified 13 eligible studies. The G894T and T786C polymorphisms showed a significant association with ED risk in Caucasians (GT + TT versus GG for G894T: OR = 2.13, 95% CI = 1.08-4.19; CC versus CT + TT for T786C: OR = 3.29, 95% CI = 2.30-4.72) and Asians (GT + TT versus GG for G894T: OR = 2.08, 95% CI = 1.53-2.84; CC + CT versus TT for T786C: OR = 3.13, 95% CI = 1.35-7.25). In addition, the intron 4 VNTR polymorphism was associated with ED risk only among Caucasian subjects (aa versus bb + ab: OR = 2.38, 95% CI = 1.15-4.93). We found no evidence of publication bias. The robustness of overall analyses was ensured in sensitivity analyses excluding studies deviating from Hardy-Weinberg equilibrium.
Our findings suggest that common genetic polymorphisms in the eNOS gene contribute to risk of ED, presumably by effects on eNOS activity and NO availability.
内皮型一氧化氮合酶（eNOS）多态性被认为是勃起功能障碍（ED）的危险因素，但遗传关联研究的结果尚无定论。我们对已发表的研究进行了荟萃分析，这些研究调查了 ED 与人类 eNOS 基因中的三个多态性（内含子 4 VNTR、G894T 和 T786C）之间的关联。
检索了截至 2017 年 11 月的 PubMed、Web of Science、CNKI 和 Google Scholar 数据库，以寻找相关的研究。纳入了病例对照设计的关联研究。对于有基因型信息的每项研究，我们计算了比值比（OR）和 95％置信区间（CI）。
搜索共确定了 13 项符合条件的研究。G894T 和 T786C 多态性与高加索人群（G894T：GT+TT 与 GG：OR=2.13，95％CI=1.08-4.19；T786C：CC 与 CT+TT：OR=3.29，95％CI=2.30-4.72）和亚洲人群（G894T：GT+TT 与 GG：OR=2.08，95％CI=1.53-2.84；T786C：CC+CT 与 TT：OR=3.13，95％CI=1.35-7.25）的 ED 风险显著相关。此外，内含子 4 VNTR 多态性仅与高加索人群的 ED 风险相关（aa 与 bb+ab：OR=2.38，95％CI=1.15-4.93）。我们未发现发表偏倚的证据。在排除不符合 Hardy-Weinberg 平衡的研究后，对整体分析的稳健性进行了敏感性分析。
我们的研究结果表明，eNOS 基因中的常见遗传多态性可能通过影响 eNOS 活性和 NO 可用性，导致 ED 风险增加。
