A Review of Genome Wide Association Studies for Erectile Dysfunction
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Purpose of Review
To review large cohort genome wide association studies for erectile dysfunction.
Two recent genome wide association studies using the Genetic Epidemiology Research in Adult Health and Aging cohort, UK Biobank, and the Partners HealthCare Biobank have identified an association between unique single nucleotide polymorphisms involved in the regulatory activity of single-minded homolog 1 (SIM1) and risk of erectile dysfunction. SIM1 is involved in the leptin-melanocortin pathway and may contribute to centrally mediated erectile dysfunction.
Identification of novel loci associated with erectile function from genome wide association studies will help expand the understanding of the breadth of pathways that contribute to erectile dysfunction. This will help accelerate studies of novel therapies for the treatment of erectile dysfunction.
KeywordsErectile dysfunction Sexual dysfunction, physiological Genome-wide association study Genetic therapy SIM1 protein, human
Compliance with Ethical Standards
Conflict of Interest
Dr. Patel has nothing to disclosure regarding the material discussed in this article.
Dr. Pastuszak reports his associations with Endo Pharmaceuticals – advisor, speaker, consultant, research and fellowship support; Antares Pharmaceuticals – advisor; and Woven Health – founder and leadership position.
Dr. Hotaling reports associations with Endo Pharmaceuticals – research and fellowship grant; Boston Scientific – fellowship grant; Nanonc, StreamDx, Andro360 – leadership position/founder.
Human and Animal Rights and Informed Consent
This article does not contain any studies with human or animal subjects performed by the author.
Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance
- 6.•• Yao HX, Ma FZ, Tan YY, Liu LY. Endothelial nitric oxide synthase gene polymorphisms and risk of erectile dysfunction: an updated meta-analysis of genetic association studies. Int J Surg. 2018;54(Pt A):141–8. This is a comprehensive meta-analysis of endothelial nitric oxide synthase gene polymorphisms and risk of erectile dysfunction.CrossRefGoogle Scholar
- 19.•• Jorgenson E, Matharu N, Palmer MR, Yin J, Shan J, Hoffmann TJ, et al. Genetic variation in the SIM1 locus is associated with erectile dysfunction. Proc Natl Acad Sci USA. 2018;115(43):11018–23. Recent large genome wide association study that identified a single locus near theSIM1gene, involved in the leptin-melanocortin pathway, that was associated with risk of erectile dysfunction independent of known risk factors.CrossRefGoogle Scholar
- 23.•• Bovijn J, Jackson L, Censin J, Chen CY, Laisk T, Laber S, et al. GWAS identifies risk locus for erectile dysfunction and implicates hypothalamic neurobiology and diabetes in etiology. Am J Hum Genet. 2019;104(1):157–63. Recent large genome wide association study identifying additional locus near theSIM1gene associated with erectile dysfunction risk.Google Scholar