Diabetes Dateline
Spring/Summer 2008

Researchers Uncover More Genetic Clues to Diabetes

An international team that included scientists from the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH), the Wellcome Trust, and the Broad Institute recently identified six more genetic variants involved in type 2 diabetes, boosting the total number of genetic risk factors associated with the disease to 16.

Last year, researchers identified at least four new genetic variants associated with increased diabetes risk and confirmed the existence of another six. See the front page story of the Fall 2007 issue of Diabetes Dateline at www.diabetes.niddk.nih.gov/about/dateline/fall07/1.htm.

None of the newest uncovered genetic variants had been suspected of playing a role in type 2 diabetes. The new variant with the strongest association with type 2 diabetes is in a gene that has also been associated with prostate cancer.

“The discovery and confirmation of these new genetic variants has been accelerated by the extensive collaboration among many laboratories studying the genetics of diabetes,” said National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Senior Adviser for Genetic Research Catherine McKeon, Ph.D.

More than 90 researchers at more than 40 research centers in Europe and North America collaborated to identify the variants after analyzing genetic data from more than 70,000 people. Study results appeared in an advanced online edition of Nature Genetics on March 31.

New Clues

“None of the genes we have found was previously on the radar screen of diabetes researchers,” said Mark McCarthy, M.D., one of the study’s senior authors. “Each of these genes provides new clues to the processes that go wrong when diabetes develops, and each provides an opportunity for the generation ofnew approaches for treating or preventing this condition.”

In a presentation at a recent NIH conference entitled “Genes, Environment, and Health Initiative: Translating Whole Genome Association Data into Clinical Practice,” McCarthy acknowledged that “we are some distance yet from translation.”

“We’re very early in this game,” said McCarthy. “There are many challenges to fill in the gaps.” Genome-wide association studies compare the genetic profiles of healthy individuals with those with specific health conditions. Such studies have uncovered genes involved in diabetes, heart disease, and cancer. Improved strategies for gene hunting and cheaper sequencing technologies are quickening the pace of discovery, helping scientists develop new diagnostic tools and strategies and target-specific therapeutics. For more information about NIDDK diabetes research, visit www2.niddk.nih.gov/Research.

[Top]

NIH Publication No. 08–4562
August 2008