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Researchers Identify New Genetic Risk Factors for Type 2 Diabetes

ide association efforts conducted to date.

“This is a phenomenal accomplishment, in terms of both the breadth and depth of the research. By pulling together and sharing their data, these three groups were able to achieve far more than any one of them could have done alone,” said Eric D. Green, M.D., Ph.D., director of NHGRI’s Division of Intramural Research. “This is scientific collaboration at its best.”

Ultimately, the researchers identified four new diabetes-associated variations, as well as confirmed previous findings that associated six other genetic variants with increased diabetes risk. The newly identified diabetes-associated variations lie in or near:

· IGF2BP2. This gene codes for a protein called insulin-like growth factor 2 mRNA binding protein 2. Insulin-like growth factor 2 is thought to play a role in regulating insulin action.

· CDKAL1. This gene codes for a protein called CDK5 regulatory subunit associated protein1-like1. The protein may affect the activity of the cyclin dependent kinase 5 (CDK5) protein, which stimulates insulin production and may influence other processes in the pancreas’s insulin-producing cells, known as beta cells. In addition, excessive activity of CDK5 in the pancreas may lead to the degeneration of beta cells.

· CDKN2A and CDKN2B. The proteins produced by these two genes inhibit the activity of cyclin-dependent protein kinases, including one that has been shown to influence the growth of beta cells in mice. Interestingly, these genes have been heavily studied for their role in cancer, but their contribution to diabetes comes as a complete surprise.

· Chromosome 11. One intriguing association is located in a region of chromosome 11 not known to contain any genes. Researchers speculate that the variant sequences may regulate the activity of genes located elsewhere in
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