Genetic Risk Factor For Erectile Dysfunction Identified For The First Time Using Biobank Data

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A study headed by Stephen Van Den Eeden of the Division of Research, Kaiser Permanente Northern California, Oakland, California, USA, has for the first time, identified a location (locus) in the human genome that raises a person’s risk of erectile dysfunction. It was published in the journal Proceedings of the National Academy of Sciences (PNAS).

According to the company, Kaiser Permanente (KP) is committed to helping shape the future of health care. Founded in 1945, headquartered in Oakland, California, Kaiser Permanente has a stated mission to provide high-quality, affordable health care services and to improve health. KP serves more than 12.2 million members in eight states and the District of Columbia.

The new study found that Single Nucleotide Polymorphisms (SNPs), single letter variations, at one locus near the SIM1 gene, were significantly associated with a 26 percent increased risk of erectile dysfunction.

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The study made use of the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort, which is part of the Kaiser Permanente Research Program on Genes, Environment and Health, a research program affiliated with the Kaiser Permanente Research Bank.

The KP Research Bank is a collection of health information and blood samples shared by volunteers. This information helps doctors and researchers learn about disease, make discoveries, find treatments, and help people live healthier lives.

The Research Bank supports external and internal investigation and includes biospecimens from more than 320,000 consenting Kaiser Permanente members, as well as linked genetic, environmental and health data.

The study KP member cohort included 36,648 men who completed a survey on their condition, had a clinical diagnosis of erectile dysfunction based on their electronic health records, and had used drugs or other erectile dysfunction treatments.

The findings in the GERA cohort were then verified in a cohort of 222,358 men from the well known, U.K. Biobank, which totals 500,000 volunteers.

The researchers ruled out the possibility that other known risk factors for erectile dysfunction, such as body mass index, or differences in how men describe their erectile dysfunction, were responsible for the associated risk. The study also demonstrated a biological role for the genetic location in regulating sexual function, strongly suggesting that these variations can cause erectile dysfunction.

“Identifying this SIM1 locus as a risk factor for erectile dysfunction is a big deal because it provides the long sought-after proof that there is a genetic component to the disease,” … “Identifying the first genetic risk factor for erectile dysfunction is an exciting discovery because it opens the door for investigations into new, genetic-based therapies.” – lead author, Eric Jorgenson, PhD, Research Scientist at KP Northern California Division of Research.

“This study points to a new research direction for erectile dysfunction that could help us identify other key genetic variants that trigger the disease and lead to investigations to better understand the precise mechanisms by which they operate,” … “Hopefully, this will translate into better treatments and, importantly, prevention approaches for the men and their partners who often suffer silently with this condition.” – Hunter Wessells, MD, chair of urology at the University of Washington School of Medicine

“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,” – Stephen Van Den Eeden, PhD, Research Scientist at the KP Northern California Division of Research.

Sources:

  1. https://www.prnewswire.com/news-releases/first-genetic-risk-factor-for-erectile-dysfunction-identified-300727098.html
  2. https://www.crunchbase.com/organization/kaiser-permanente#section-overview
  3. https://researchbank.kaiserpermanente.org/
  4. https://doi.org/10.1073/pnas.1809872115
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