A study identifies a genetic risk variant for erectile dysfunction. Previous studies have suggested genetic risk factors of erectile dysfunction, but no specific risk variants have been identified. Eric Jorgenson, Stephen Van Den Eeden, and colleagues conducted a genome-wide association study using data from 36,649 men and tested the results for reproducibility in a different dataset of 222,358 men from the United Kingdom. The authors identified a genetic locus near the SIM1 gene that was significantly associated with risk of erectile dysfunction. The link to the locus was independent of previously known risk factors, suggesting a mechanism specific to sexual function. The risk locus interacts with the promoter region of the SIM1 gene, which encodes a gene switch that is a part of the leptin-melanocortin pathway; the pathway plays a central role in maintaining body weight and sexual function. Because the association between the risk locus and erectile dysfunction was independent of body mass index, the authors suggest that the effects of the locus on SIM1 are likely linked to the neurons that control erectile function but not to those involved in feeding and maintaining body weight. According to the authors, the study suggests a previously unknown risk factor and lends insight into the mechanism of erectile dysfunction.
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Article #18-09872: "Genetic variation in the SIM1 locus is associated with erectile dysfunction," by Eric Jorgenson et al.
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Proceedings of the National Academy of Sciences