David Altshuler: Collaborative effort identifies six new type 2 diabetes genes
By: Tory Asfahani
31-Mar-2008 – Reuters reported on several ADA-funded researchers describing the discovery of six new genes associated with type 2 diabetes. David Altshuler, MD, PhD, Michael Boehnke, PhD, and postdoctoral fellow Cristen Willer, PhD, were among several researchers to publish the data in the prestigious journal Nature Genetics last month.
This brings the total of type 2 diabetes associated genes to 16. According to a March 31, 2008 press release by the National Institutes of Health (NIH), the research that led to the discovery of the six new genes was conducted by the DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) consortium, made up of several different groups working on type 2 diabetes research.
Dr. Altshuler, Associate Professor of Genetics and Medicine at Massachusetts General Hospital and the Broad Institute of Massachusetts Institute of Technology, is the recipient of an ADA administered Richard and Susan Smith Family Foundation Pinnacle Program Project Award. His ADA award supported his participation in the Diabetes Genetics Initiative (DGI) which was part of the DIAGRAM Consortium.
Dr. Boehnke, a Professor at the University of Michigan, and his postdoctoral fellow Dr. Willer, received funding support through an ADA Mentor-Based Postdoctoral Fellowship Award. This award allowed Dr. Willer to become involved in the Finland-United States Investigation of NIDDM Genetics (FUSION). Like the DGI study, FUSION was also a part of the DIAGRAM Consortium.
In order to identify the six new gene regions, researchers initially combined data from three studies (the DGI and FUSION studies mentioned above, as well as the Wellcome Trust Case Control Consortium (WTCCC)). The resulting sample of 10,128 individuals of European descent helped them boost their statistical power and identify possible type 2 diabetes genes in locations previously not suspected. Follow up of these initial results in tens of thousands of additional samples from research groups at over 40 centers across the United States and Europe resulted in clear evidence for six new diabetes gene regions,
The gene regions identified were: JAZF1, CDC123-CAMK1D, TSPAN8-LGR5, THADA, ADAMTS9, and NOTCH2. Interestingly, researchers found that JAZF1 is not only linked to type 2 diabetes, but also to prostate cancer.
A quote from Dr. Altshuler in the NIH press release states, “By combining information from the large number of genes now implicated in diabetes risk, it may be possible to use genetic tools to identify people at unusually high or low risk of diabetes. However, until we know how to use this information to prompt beneficial changes in people’s treatment or lifestyle, widespread genetic testing would be premature.”
A Reuters press release announcing this discovery can also be found on the ADA web site.
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