Skip to Content
800-533-8762
  • Careers
  • Newsroom
  • Health Care Professionals
  • About Us
  • Contact Us
UPMC
  • Find a Doctor
  • Services
    • Frequently Searched Services
    • Frequently Searched Services
      Allergy & Immunology Behavioral & Mental Health Cancer Ear, Nose & Throat Endocrinology Gastroenterology Heart & Vascular Imaging Neurosciences Orthopaedics
      Physical Rehabilitation Plastic & Reconstructive Surgery Primary Care Senior Services Sports Medicine Telemedicine Transplant Surgery Walk-In Care Weight Management Women’s Health
      See all Services
    • Services by Region
    • Find a UPMC health care facility close to you quickly by browsing by region.
      UPMC in Western Pa. Western Pa. and New York
      UPMC in Central Pa. Central Pa.
      UPMC in North Central Pa. North Central Pa.
      UPMC in Western Md. Maryland & West Virginia
    • See All Services
  • Locations
    • Locations by Type
    • Locations by Type
      UPMC hospitals
      Hospitals
      Physical Therapy
      Physical Therapy
      Urgent care
      Walk-In Care
      UPMC Outpatient Centers
      Outpatient Centers
      UPMC Imaging Services
      Imaging
      Community Health Centers
      Community Health Centers
      See All Locations
    • Locations by Region
    • Locations by Region
      UPMC in Southwest Pa. Southwest Pa.
      UPMC in North Central Pa. North Central Pa.
      UPMC in Northwest Pa and Ny. Northwest Pa. & Western N.Y.
      UPMC in West Central Pa. West Central Pa.
      UPMC in Central Pa. Central Pa.
      UPMC in Western Md. Maryland & West Virginia
    • See All Locations
  • Patients & Visitors
    • Patient & Visitor Resources
    • Patient & Visitor Resources
      Patients and Visitors Resources Pay a Bill Classes & Events Medical Records Health Library Patient Information
      Patient Portals Privacy Information Shared Decision Making Traveling Patients Visitor Information
      Man uses mobile phone
      Pay a Bill
      Nurse reviews medical chart
      Request Medical Records
  • Patient Portals
  • Find Covid-19 updates
  • Schedule an appointment
  • Request medical records
  • Pay a bill
  • Learn about financial assistance
  • Find classes & events
  • Send a patient an eCard
  • Make a donation
  • Volunteer
  • Read HealthBeat blog
  • Explore UPMC Careers
Skip to Content
UPMC
  • Patient Portals
  • For Patients & Visitors
    • Find a Doctor
    • Locations
    • Patient & Visitor Resources
    • Pay a Bill
    • Services
    • More
      • Medical Records
      • Financial Assistance
      • Classes & Events
      • HealthBeat Blog
      • Health Library
  • About UPMC
    • Why UPMC
    • Facts & Stats
    • Supply Chain Management
    • Community Commitment
    • More
      • Financials
      • Support UPMC
      • UPMC Apps
      • UPMC Enterprises
      • UPMC International
  • For Health Care Professionals
    • Physician Information
    • Resources
    • Education & Training
    • Departments
    • Credentialing
  • Careers
  • Contact Us
  • Newsroom
  • UPMC >
  • Media Relations >
  • News Releases >
  • duerr crohnsmicrobiome gastro
Media Relations
News Releases
Central Pa. News
North Central Pa. News
Contact Us
Experts
Community-Focused News
Media Kits
Media RSS
Media Relations
News Releases
Central Pa. News
North Central Pa. News
Contact Us
Experts
Community-Focused News
Media Kits
Media RSS

​Genetic Variant Newly Linked to Crohn’s Disease Also Associated with Altered Gut Microbiome Composition

For Journalists

Allison Hydzik
Director, Science and Research
412-647-9975
hydzikam@upmc.edu

Want to Make an Appointment or Need Patient Information?
Contact UPMC at

1-800-533-8762.

Go to Find a Doctor to search for a UPMC doctor.

UPMC color stacked

8/1/2016

Main Content
PITTSBURGH, Aug. 1, 2016 – An international team led by researchers at the University of Pittsburgh, Cedars-Sinai Medical Center and the University of California Los Angeles discovered that a genetic variation previously linked to obesity, cholesterol levels, blood pressure and schizophrenia also is associated with Crohn’s disease, a chronic inflammatory condition of the gastrointestinal tract that is estimated to cost the U.S. $6 billion annually.
 
In addition, the genetic variant is associated with changes in the composition of the gut microbiome—which is made up of potentially billions of microbes that help people digest food, synthesize nutrients and perform myriad other essential functions—in healthy people, overweight people and people with Crohn’s disease. The findings are reported online and scheduled for the October issue of the journal Gastroenterology, and the research was funded by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and Helmsley Charitable Trust, among others.
 
“We knew from previous studies that there is reduced diversity of the gut microbiome in patients with Crohn’s disease,” said co-senior and corresponding author Richard Duerr, M.D., a professor in Pitt’s School of Medicine, and co-director and scientific director of the UPMC Inflammatory Bowel Disease Center. “But that left us with a question: Does Crohn’s disease alter the composition of the gut microbiota, or do pre-existing changes in the gut microbiota confer risk for Crohn’s disease? Our study found that there is a reduction in the abundance of hundreds of minor species of gut bacteria in healthy, overweight and Crohn’s disease-affected people who carry this genetic variant, suggesting that the genetic variant may increase risk for disease by altering the gut habitat. This is an important step toward understanding how the disease works so we can develop therapies or a cure in the future.”

Under the leadership of Dr. Duerr and co-senior author Dermot McGovern, M.D., Ph.D., F.R.C.P. (Lon), director of Translational Medicine in the Cedars-Sinai F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, the team focused their analysis on 10,523 blood samples from people with inflammatory bowel disease (half had been diagnosed with Crohn’s disease) and 5,726 samples from healthy people.  They discovered that a variation in the SLC39A8 gene is associated with Crohn’s disease.
 
“This finding is another important example of how a particular genetic variant can have a role in the development and course of many diseases. Our study of this variant suggests that therapies effective in treating one disease also may benefit the treatment of some patients with other illnesses,” said Dr. McGovern, who also is director of Precision Medicine at Cedars-Sinai.
 
Taking it a step further, the team identified healthy people, overweight people and Crohn’s disease-affected people with the genetic variant and analyzed their gut microbiomes under the leadership of co-senior author Jonathan Braun, M.D., Ph.D., chair and professor of pathology and laboratory medicine in the David Geffen School of Medicine at UCLA. That is how they discovered that the genetic variant is not just linked to Crohn’s and other conditions, but also to a reduction in hundreds of species of gut bacteria.
“Many of these species are believed to play roles in protecting the intestine against Crohn’s disease, and also in preserving a lean body physiology,” said Dr. Braun. “So, this may be an example where the gene increases risk for disease via its effect on types of bacteria we need to preserve our health.”

The findings have sparked additional questions and potential research avenues, but therapies are still quite a ways off, said Dr. Duerr, also a professor in the Pitt Graduate School of Public Health Department of Human Genetics. However, the recent establishment of the University of Pittsburgh Center for Medicine and the Microbiome will help accelerate this research and bring potential therapies—which may involve the center’s clinical fecal transplantation program—to patients.

“This study illustrates the remarkable interaction between our proper genome and our symbiome—the organisms and environment inside and outside of us that influence our well-being—in the setting of inflammatory bowel disease,” said Mark T. Gladwin, M.D., chair of medicine and Dr. Jack D. Myers Professor of Internal Medicine at Pitt. “Insights from this study are likely to guide the development of microbiome modulating therapies that hold the promise to alleviate patient suffering.”

Additional institutions with researchers who participated in this study are Cleveland Clinic; Yale University; Karolinska Institutet and Örebro University, both in Sweden; Biocruces Health Research Institute in Spain; University Hospital Munich-Grosshadern, University of Ulm, Krankenhaus Waldfriede and Ludwig-Maximilians-University, all in Germany; QIMR Berghofer Medical Research Institute, Royal Brisbane and Women’s Hospital and University of Queensland, all in Australia; Inselspital Bern and University Hospital Basel, both in Switzerland; Emory University; University of Chicago; Harvard University; Université de Montréal, Hôpital Maisonneuve-Rosemont, University of Toronto and Montreal Heart Institute, all in Canada; Icahn School of Medicine at Mount Sinai; University of California Riverside; The Children’s Hospital of Philadelphia; Massachusetts Institute of Technology; and Johns Hopkins University.

Additional support for this research was provided by numerous grants to the individual researchers, as listed in the Gastroenterology research publication.

UPMC
200 Lothrop Street Pittsburgh, PA 15213

412-647-8762 800-533-8762

Patients And Visitors
  • Find a Doctor
  • Locations
  • Pay a Bill
  • Patient & Visitor Resources
  • Disabilities Resource Center
  • Services
  • Medical Records
  • No Surprises Act
  • Price Transparency
  • Financial Assistance
  • Classes & Events
  • Health Library
Health Care Professionals
  • Physician Information
  • Resources
  • Education & Training
  • Departments
  • Credentialing
Newsroom
  • Newsroom Home
  • Inside Life Changing Medicine Blog
  • News Releases
About
  • Why UPMC
  • Facts & Stats
  • Supply Chain Management
  • Community Commitment
  • Financials
  • Supporting UPMC
  • HealthBeat Blog
  • UPMC Apps
  • UPMC Enterprises
  • UPMC Health Plan
  • UPMC International
  • Nondiscrimination Policy
Life changing is...
Follow UPMC
  • Contact Us
  • Website/Email Terms of Use
  • Medical Advice Disclaimer
  • Privacy Information
  • Active Privacy Alerts
  • Sitemap
© 2025 UPMC I Affiliated with the University of Pittsburgh Schools of the Health Sciences Supplemental content provided by Healthwise, Incorporated. To learn more, visit healthwise.org
Find Care
Providers
Video Visit
Portal Login

Chat Keywords List

  • cancel or exit: Stops your conversation
  • start over: Restarts your current scenario
  • help: Shows what this bot can do
  • terms: Shows terms of use and privacy statement
  • feedback: Give us feedback
Continue
Chat with UPMC
RESTART
MENU
CLOSE