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

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 rs57...

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Detalles Bibliográficos
Autores principales: Bovijn, Jonas, Jackson, Leigh, Censin, Jenny, Chen, Chia-Yen, Laisk, Triin, Laber, Samantha, Ferreira, Teresa, Pulit, Sara L., Glastonbury, Craig A., Smoller, Jordan W., Harrison, Jamie W., Ruth, Katherine S., Beaumont, Robin N., Jones, Samuel E., Tyrrell, Jessica, Wood, Andrew R., Weedon, Michael N., Mägi, Reedik, Neale, Benjamin, Lindgren, Cecilia M., Murray, Anna, Holmes, Michael V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323625/
https://www.ncbi.nlm.nih.gov/pubmed/30583798
http://dx.doi.org/10.1016/j.ajhg.2018.11.004
Descripción
Sumario: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.

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