In a specific area of the genome, variations were associated with a 26 percent increased risk of the erectile dysfunction.
Erectile dysfunction, the inability to obtain and maintain an erection sufficient for sexual activity, is a common and costly condition of men.
It primarly affects middle-aged and older men.
The disease is linked to many causes, including neurological, hormonal and vascular factors.
New therapeutics are needed because about half of all men don’t respond to available pharmaceutical treatments.
The new two-year study found that variations in a specific place in the genome, near the SIM1 gene, are associated with a 26 percent increased risk of erectile dysfunction.
The researchers ruled out that the risk was due to other known risk factors for erectile dysfunction, such as body mass index, or differences in how men describe their erectile dysfunction.
By demonstrating a biological role for the genetic location in regulating sexual function, the study strongly suggested that these variations can cause erectile dysfunction.
Replicating the association in the U.K. Biobank sample helped confirm the findings.
The research was conducted as a genome-wide association study in two large, diverse cohorts.
The first included 36,648 men from the Genetic Epidemiology Research on Adult Health and Aging cohort, or GERA.
Those findings were then verified in a cohort of 222,358 men from the UK Biobank.
The existence of these genetic banks finally made this research possible, Hunter Wessells, chair of urology at the University of Washington School of Medicine and one of the study’s principal investigators, who has been studying this topic for 15 years, said.
An actual clinical treatment for erectile dysfunction, based on these findings, is years in the future.
The next step, Wessells said, it to take these results, and test them against an even larger database, and against laboratory computer models.
Erectile dysfunction has been difficult to study in part because of the differences in how patients report their symptoms.
To overcome this challenge, the study looked to see whether the SIM1 locus was a risk factor when considering the various ways men told their doctors about their sexual problems.
The study found that this location was stil a risk factor for erectile dysfunction, whether the disorder was defined through clinical diagnoses, prescriptions history, or self-reported by study participants.
The UW School of Medicine, Kaiser Permanente Northern California, UCSF and the University of Utah collaborated on the study.
Co-authors from the UW School of Medicine included Melody R. Palmer and Gail Jarvik.
Co-authors on the study from the Kaiser Division of Research include Jie Yin, Jun Shan and Khanh K. Thai. Co-authors from the University of California, San Francisco, include Navneet Matharu, Thomas J. Hoffmann, Xujia Zhou and Nadav Ahituv.
Co-author James M. Hotaling is from the University of Utah School of Medicine.
For more information
Genetic variation in the SIM1 locus is associated with erectile dysfunction
Kaiser Permanente’s Division of Research
The University of California, San Francisco (UCSF)
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