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

By Jonas Bovijn, Leigh Jackson, Jenny Censin, Chia-Yen Chen, Triin Laisk-Podar, Samantha Laber, Teresa Ferreira, Craig Glastonbury, Jordan Smoller, Jamie W Harrison, Katherine S Ruth, Robin N Beaumont, Samuel E Jones, Jessica Tyrrell, Andrew R Wood, Michael N Weedon, Reedik Mägi, Benjamin Neale, Cecilia M Lindgren, Anna Murray, Michael V Holmes

Posted 15 Mar 2018
bioRxiv DOI: 10.1101/283002

GWAS of erectile dysfunction (ED) in 6,175 cases among 223,805 European men identified one new 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 indicates genetic risk of type 2 diabetes causes ED. Our findings provide novel insights into the biological underpinnings of ED.

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