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Major collaboration uncovers surprising new genetic clues to diabetes
Date:3/30/2008

senior author, David Altshuler, M.D., Ph.D., of Massachusetts General Hospital in Boston and the Broad Institute of Massachusetts Institute of Technology and Harvard in Cambridge, Mass.

Type 2 diabetes affects more than 200 million people worldwide, including nearly 21 million people in the United States. Previously known as adult-onset, or non-insulin dependent diabetes mellitus (NIDDM), type 2 diabetes usually appears after age 40, often in overweight, sedentary people. However, a growing number of younger people and even children are developing the disease.

Diabetes is a major cause of heart disease and stroke in U.S. adults, as well as the most common cause of blindness, kidney failure and amputations not related to trauma. Type 2 diabetes is characterized by the resistance of target tissues to respond to insulin, which controls glucose levels in the blood; and a gradual failure of insulin-secreting cells in the pancreas.

These new variants, along with other recent genetic findings, provide a window into disease causation that may be our best hope for the next generation of therapeutics. By pinpointing particular pathways involved in diabetes risk, these discoveries can empower new approaches to understanding environmental influences and to the development of new, more precisely targeted drugs, said NHGRI Director Francis S. Collins, M.D., Ph.D., who is a co-author of the study. Dr. Collins' laboratory is a participant in the FINRISK 2002 and Finland-United States Investigation of NIDDM Genetics (FUSION), which were among the studies that contributed data to the new analysis. FUSION is funded by NHGRIs Division of Intramural Research and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).

Researchers said more work is needed to understand the impact of their discovery that a genetic variant called JAZF1 appears to be involved in diabetes as well as prostate cancer. One of the studys lead auth
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Contact: Geoff Spencer
spencerg@mail.nih.gov
301-402-0911
NIH/National Human Genome Research Institute
Source:Eurekalert

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