PHOENIX, Ariz. — Oct. 1, 2013 — A groundbreaking study of nearly 2,300 extremely obese diabetes patients, led by the Translational Genomics Research Institute (TGen), has identified genes associated with unhealthy liver function.
This is believed to be the nation's first large-scale genome-wide association study in overweight patients with diabetes.
Results of the study, done in conjunction with the Geisinger Health System, will be presented at the 64th annual meeting of the American Association for the Study of Liver Diseases Nov. 1-5 at the Walter E. Washington Convention Center in Washington, D.C.
The study — Genome-wide analysis identifies loci associated with total bilirubin levels, steatosis, and mild fibrosis in nonalcoholic fatty liver disease — looked at how genomic factors affect the development of non-alcoholic fatty liver disease. It was selected for presentation from among a record 3,139 submittals from around the world proposed for what also is known as The Liver Meeting 2013.
"These genetic factors could help us identify patients who are most at risk of developing non-alcoholic forms of fatty-liver disease (NAFLD), and which patients may be more likely to progress to severe forms of NAFLD, such as steatohepatitis (NASH)," said Dr. Johanna DiStefano, the study's principal investigator and lead author. Dr. DiStefano is Director of TGen's Diabetes, Cardiovascular and Metabolic Diseases Division.
NAFLD is the build up of extra fat in liver cells, not caused by alcohol. It is one of the most common causes of chronic liver disease. NASH is liver inflammation and damage caused by a buildup of fat in the liver, not caused by alcohol.
"Our results showed evidence for new genetic loci that may play a role in the biological mechanisms of NAFLD and NASH," said Dr. Glenn S. Gerhard, a faculty member of the Geisinger Obesity Institute and a co-investigator of the study.
"We discovered genes that may help identify those patients most at risk for the types of liver disease so severe that they could require transplants," said Dr. Gerhard, Administrative Director for the Institute for Personalized Medicine at Penn State University-Hershey.
Patients included in this study were those with extreme obesity enrolled in a bariatric surgery program.
The study identified evidence for association with markers in the neurocan gene (NCAN) on chromosome 19p12, and rs2501843 on chromosome 1.
The American Association for the Study of Liver Diseases (AASLD) is the leading organization of scientists and healthcare professionals committed to preventing and curing liver disease. AASLD was founded in 1950 by a small group of leading liver specialists to bring together those who had contributed to the field of hepatology.
AASLD has grown to an international society responsible for all aspects of hepatology. Its annual meeting, The Liver Meeting, has grown in attendance from 12 to more than 9,500 physicians, surgeons, researchers, and allied health professionals from around the world.
About Geisinger Health System
Geisinger Health System is an integrated health services organization widely recognized for its innovative use of the electronic health record, and the development of innovative care models such as ProvenHealth Navigator® and ProvenCare®. As the nation's largest rural health services organization, Geisinger serves more than 2.6 million residents throughout 44 counties in central and northeastern Pennsylvania. The physician-led system is comprised of more than 19,500 employees, including a 1,000-member multi-specialty group practice, six hospital campuses, two research centers and a 448,000-member health plan, all of which leverage an estimated $6.1 billion positive impact on the Pennsylvania economy. The health system and the health plan have repeatedly garnered national accolades for integration, quality and service. In addition to fulfilling its patient care mission, Geisinger has a long-standing commitment to medical education, research and community service. For more information, visit http://www.geisinger.org, or follow the latest Geisinger news and more on Twitter and Facebook.
Media Team Director
Geisinger Health System
Translational Genomics Research Institute (TGen) is a Phoenix, Arizona-based non-profit organization dedicated to conducting groundbreaking research with life changing results. TGen is focused on helping patients with cancer, neurological disorders and diabetes, through cutting edge translational research (the process of rapidly moving research towards patient benefit). TGen physicians and scientists work to unravel the genetic components of both common and rare complex diseases in adults and children. Working with collaborators in the scientific and medical communities literally worldwide, TGen makes a substantial contribution to help our patients through efficiency and effectiveness of the translational process. For more information, visit: http://www.tgen.org.
TGen Senior Science Writer