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

Jonas Bovijn; Leigh M. Jackson; Jenny C. Censin; Chia‐Yen Chen; Triin Laisk; Samantha Laber; Teresa Cruz Ferreira; Sara L. Pulit; Craig A. Glastonbury; Jordan W. Smoller; Jamie Harrison; Katherine S. Ruth; Robin N. Beaumont; Samuel E. Jones; Jessica Tyrrell; Andrew R. Wood; Michael N. Weedon; Reedik Mägi; Benjamin M. Neale; Cecilia M. Lindgren; Anna Murray; Michael Vaclav Holmes

doi:10.1016/j.ajhg.2018.11.004

GenomicsThe American Journal of Human GeneticsDec 21, 2018

Peer-reviewed journal article

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

Jonas Bovijn iD, Leigh M. Jackson iD, Jenny C. Censin iD, Chia‐Yen Chen iD, Triin Laisk iD, Samantha Laber iD, Teresa Cruz Ferreira iD, Sara L. Pulit iD, Craig A. Glastonbury iD, Jordan W. Smoller iD, Jamie Harrison iD, Katherine S. Ruth iD, Robin N. Beaumont iD, Samuel E. Jones iD, Jessica Tyrrell iD, Andrew R. Wood iD, Michael N. Weedon iD, Reedik Mägi iD, Benjamin M. Neale iD, Cecilia M. Lindgren iD, Anna Murray iD, Michael Vaclav Holmes iD

Abstract

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 = 5.71x10-14), 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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