GWAS identifies risk locus for erectile dysfunction and implicates hypothalamic neurobiology and diabetes in etiology

Journal article

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.

Authors: Bovijn, J; Jackson, L; Censin, J; Chen, CY; Laisk, T

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Cell Press
• Journal: American Journal of Human Genetics
• Volume: 104
• Issue: 1
• Pages: 157-163
• Publication date: 2018-12-21
• Acceptance date: 2018-11-07
• DOI: 10.1016/j.ajhg.2018.11.004
• EISSN: 1537-6605
• ISSN: 0002-9297
• Pmid: 30583798
• Language: English
• Keywords: diabetes; UK biobank; mendelian randomisation; impotence; erectile dysfunction; Mendelian randomization; genome-wide association; GWAS; SIM1