Genetic Risk Factor for Erectile Dysfunction Identified

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In a new study that ultimately analyzed the genomes of nearly a quarter of a million men, a research team including UC San Francisco scientists has discovered that variants at a single site on Chromosome 6 are associated with a significantly higher risk of developing erectile dysfunction (ED).

The new study – a collaboration between researchers from the lab of UCSF professor Nadav Ahituv, PhD, and researchers at Kaiser Permanente Northern California, the University of Utah and the University of Washington – will be published this week in Proceedings of the National Academies of Sciences.

Nadav Ahituv, PhD, (right) works in the lab. Although earlier studies of twins have demonstrated that at least a third of ED risk is heritable, until now scientists had never been able to locate a site in the genome that confers this risk.

What brought success this time around was the new study’s massive scale. By analyzing medical records and DNA samples from 36,649 men in the Kaiser Permanente Research Bank’s Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort, the researchers identified a genomic region, or “locus,” associated with ED risk with very high statistical certainty. Then, the scientists confirmed this result in a second study cohort, based on records and DNA from 222,358 men in a large database known as the U.K. Biobank. 

“This significant advance in our understanding of erectile dysfunction is made possible by the unique ability of the Kaiser Permanente Research Bank to link detailed questionnaires, electronic health records, and genetic data on such a large population,” said senior author Stephen Van Den Eeden, PhD, adjunct professor of urology at UCSF and research scientist at Kaiser Permanente Northern California’s Division of Research. 

Both study cohorts were ethnically diverse, including men who identified as white, Latino, African-American and East Asian. The genetic locus on Chromosome 6 was consistently associated with ED risk …

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