Department of Urology, University of Washington, Seattle, Washington, USA.
J Urol. 2012 Nov;188(5):1676-83. doi: 10.1016/j.juro.2012.07.008. Epub 2012 Sep 19.
Erectile dysfunction affects 50% of men older than 40 years. Recently more attempts have been made to identify genetic predictors of this disease. We reviewed animal and human data on genes related to the development and increased risk of erectile dysfunction.
A literature search was performed using the PubMed® database. Articles addressing genes involved in erectile dysfunction were evaluated.
The majority of studies used a candidate gene approach to investigate genetic polymorphisms of known pathways mediating erection/detumescence. Studies in human and animal models are available. Human studies often compared the frequency of a specifically predetermined genetic polymorphism in men with erectile dysfunction to that in matched controls in whom few genes were persistently replicated. Several gene expression profiling studies are available that targeted specific erectile dysfunction models. Currently, there are few human genome wide association studies of erectile dysfunction.
Studies investigating the genetics of erectile dysfunction are mostly derived from animal models and candidate gene approaches. Candidate gene studies omit the greater portion of the genome, a problem that can be solved using a genome wide association study approach. The lack of persistently replicated results of candidate gene studies may be related to different patient ethnic backgrounds, variations in erectile dysfunction etiology and small sample sizes. Using strict inclusion/exclusion criteria for erectile dysfunction etiology and ethnicity in human studies may lead to improved understanding of the genetics of erectile dysfunction in specific populations.
勃起功能障碍影响 50%的 40 岁以上男性。最近,人们越来越努力地寻找这种疾病的遗传预测因子。我们回顾了与阴茎勃起和勃起功能障碍风险增加相关的基因的动物和人类数据。
使用 PubMed®数据库进行文献检索。评估了涉及勃起功能障碍相关基因的文章。
大多数研究采用候选基因方法来研究已知介导勃起/松弛途径的遗传多态性。在人类和动物模型中都有研究。人类研究通常比较勃起功能障碍男性特定预先确定的遗传多态性的频率与匹配对照者中很少有基因持续复制的频率。目前有一些针对特定勃起功能障碍模型的基因表达谱研究。目前,勃起功能障碍的全基因组关联研究很少。
研究勃起功能障碍遗传学的研究大多来自动物模型和候选基因方法。候选基因研究忽略了大部分基因组,这个问题可以通过全基因组关联研究方法来解决。候选基因研究中持续复制结果的缺乏可能与不同的患者种族背景、勃起功能障碍病因的变化和样本量小有关。在人类研究中,使用严格的勃起功能障碍病因和种族纳入/排除标准可能会导致对特定人群中勃起功能障碍遗传的更好理解。