Division of Urology, Department of Surgery, University of Utah Health, Salt Lake City, UT, USA.
Division of Urology, Department of Surgery, University of Utah Health, Salt Lake City, UT, USA.
Eur Urol Focus. 2020 May 15;6(3):572-574. doi: 10.1016/j.euf.2019.08.006. Epub 2019 Aug 29.
There is considerable interest in understanding the genetics of erectile dysfunction (ED) and Peyronie's disease (PD) in an effort to identify novel therapeutic and preventative targets. Initial support for a genetic component of ED and PD was derived from familial aggregation studies. Candidate gene studies have suggested an association between polymorphisms of eNOS and ED and between TGF-β1 and PD. More recently, several genome-wide association studies have suggested an association between single-nucleotide polymorphisms of the SIM1 gene and ED. The development of models and functional assays that are able to explore these potential pathways implicated in ED and PD is pivotal for future studies. We highlight the current literature that supports a genetic component for ED and PD. PATIENT SUMMARY: There is great interest in understanding the genetic underpinnings of erectile dysfunction and Peyronie's disease. Candidate gene studies and genome-wide association studies have set a foundation for future work; however, we have yet to determine a true genetic cause. A better understanding of the genetics of these conditions will help advance novel therapeutics and preventative strategies.
人们对于理解勃起功能障碍（ED）和佩罗尼氏病（PD）的遗传学非常感兴趣，希望能够发现新的治疗和预防靶点。最初，家族聚集研究为 ED 和 PD 的遗传成分提供了支持。候选基因研究表明，eNOS 多态性与 ED 之间存在关联，TGF-β1 与 PD 之间存在关联。最近，几项全基因组关联研究表明，SIM1 基因的单核苷酸多态性与 ED 之间存在关联。开发能够探索这些与 ED 和 PD 相关的潜在途径的模型和功能检测方法对于未来的研究至关重要。我们强调了支持 ED 和 PD 遗传成分的当前文献。患者总结：人们对理解勃起功能障碍和佩罗尼氏病的遗传基础非常感兴趣。候选基因研究和全基因组关联研究为未来的工作奠定了基础；然而，我们还没有确定一个真正的遗传原因。更好地了解这些疾病的遗传学将有助于推进新的治疗和预防策略。
