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Erectile dysfunction (ED) is a common condition affecting more than 20% of men over 60 years, yet little is known about its genetic architecture. We performed a genome-wide association study of ED in 6,175 case subjects among 223,805 European men and identified one locus at 6q16.3 (lead variant rs57989773, OR 1.20 per C-allele; p = 5.71 × 10-14), located between MCHR2 and SIM1. In silico analysis suggests SIM1 to confer ED risk through hypothalamic dysregulation. Mendelian randomization provides evidence that genetic risk of type 2 diabetes mellitus is a cause of ED (OR 1.11 per 1-log unit higher risk of type 2 diabetes). These findings provide insights into the biological underpinnings and the causes of ED and may help prioritize the development of future therapies for this common disorder.

Original publication

DOI

10.1016/j.ajhg.2018.11.004

Type

Journal article

Journal

Am J Hum Genet

Publication Date

03/01/2019

Volume

104

Pages

157 - 163

Keywords

GWAS, Mendelian randomization, SIM1, UK biobank, diabetes, erectile dysfunction, genome-wide association, impotence, mendelian randomisation