Genes and erectile function

Few human studies have been performed with specific genetic endpoints coupled with erectile function or dysfunction. Most knowledge of gene expression and the function thereof on penile erection has been acquired in experimental models. The purpose of the present review is to give an overview of the available information obtained in studies of genes or genetic products versus erectile function or dysfunction.

The association of, for example, systemic vascular disease with diminished erectile function has brought attention to investigations of the distribution, in men with erectile dysfunction, of some genotype variants proposed to be involved in cardiovascular disease. Altered expression or activities of some smooth muscle regulatory components of the ischaemic, diabetic, or ageing penis have been reported.

Although penile erection can be considered a polygenic trait, some key effectors for normal erectile function within, for example, the nitric oxide/cyclic guanosine monophosphate pathway may be identified. Findings in future population-based studies may disclose the presence of a particular mutation of a gene or gene variants that may predispose to the development of erectile dysfunction. The exact molecular pathogenesis of erectile dysfunction is not known, and may vary between different forms of erectile dysfunction. With integrated approaches in genetic, molecular, and functional investigations, we can learn more of the impact of a particular genotype on erectile function, and also identify targets for preventive, pharmacological, or molecular measures.