Researchers identify new genetic risk factors for type 2 diabetes

In the most comprehensive look at genetic risk factors for type 2 diabetes to date, a U.S.-Finnish team, working in close collaboration with two other groups, has identified at least four new genetic variants associated with increased risk of diabetes and confirmed existence of another six. The findings of the three groups, published simultaneously today in the online edition of the journal Science, boost to at least 10 the number of genetic variants confidently associated with increased susceptibility to type 2 diabetes – a disease that affects more than 200 million people worldwide.

"This achievement represents a major milestone in our battle against diabetes. It will accelerate efforts to understand the genetic risk factors for this disease, as well as explore how these genetic factors interact with each other and with lifestyle factors," said National Institutes of Health (NIH) Director Elias A. Zerhouni, M.D. "Such research is opening the door to the era of personalized medicine. Our current one-size-fits-all approach will soon give way to more individualized strategies based on each person's unique genetic make-up."

Led by Michael Boehnke, Ph.D., of the University of Michigan's School of Public Health, Ann Arbor; Francis Collins, M.D., Ph.D., of the National Human Genome Research Institute; Richard Bergman, Ph.D., of the University of Southern California, Los Angeles; Karen Mohlke, Ph.D. of the University of North Carolina, Chapel Hill; and Jaakko Tuomilehto, M.D., Ph.D. of the University of Helsinki and National Public Health Institute in Finland; the U.S.-Finnish team received major support from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and NHGRI's Division of Intramural Research, both part of the NIH. The laboratory analysis of genetic variants in the first stage of the study was conducted by the Center for Inherited Disease Research, using funding from NIH and The Johns Hopkins University in Baltimore.

The research was carried out in conjunction with the work of two other teams: the Diabetes Genetics Initiative, which is a collaboration of the Broad Institute of Harvard and MIT, Cambridge, Mass.; Lund University, Malmo, Sweden; and Novartis, Basel, Switzerland; and the Wellcome Trust Case Control Consortium/U.K. Type 2 Diabetes Genetics Consortium. The Diabetes Genetics Initiative was led by David Altshuler, M.D., Ph.D., Broad Institute; Leif Groop, M.D., Ph.D., Lund University; and Thomas Hughes, Ph.D., Novartis. The British team was led by Mark McCarthy, M.D., FRCP, Oxford University and Andrew Hattersley, D.M., FRCP, Peninsula Medical School, Plymouth.

"It's been a formidable challenge to identify the complex genetic factors involved in common diseases, such as type 2 diabetes. Now, thanks to the tools and technologies generated by the sequencing of the human genome and subsequent mapping of common human genetic variations, we finally are making significant progress," said NHGRI Director Collins, who led the NIH component of the Human Genome Project.