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GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology

2018; Elsevier BV; Volume: 104; Issue: 1 Linguagem: Inglês

10.1016/j.ajhg.2018.11.004

1537-6605

Jonas Bovijn, Leigh Jackson, Jenny C. Censin, Chia‐Yen Chen, Triin Laisk, Samantha Laber, Teresa Ferreira, Sara L. Pulit, Craig A. Glastonbury, Jordan W. Smoller, James 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 V. Holmes,

Eating Disorders and Behaviors

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.