Genetics of erectile dysfunction.

PURPOSE: 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.

MATERIALS AND METHODS: A literature search was performed using the PubMed® database. Articles addressing genes involved in erectile dysfunction were evaluated.

RESULTS: 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.

CONCLUSIONS: 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.