GWAS Science Reporter's Seminar Video
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During his presentation at the May 1, 2007, Science Reporters' Seminar on Genome-Wide Association Studies (GWAS), Francis S. Collins, M.D., Ph.D., director of the National Human Genome Research Institute, one of the National Institutes of Health, described an unexpected finding from three GWAS studies on diabetes published by Science Express on April 27, 2007. The research correlates with similar findings related to heart disease by two other groups that was published in Science Express on May 3.
All five groups found an association between CDKN2A and CDKN2B and elevated risks for either diabetes or heart disease. The same 50,000 base-pair region of the human genome seems to be involved in both diseases. Dr. Collins reported that these genes have been well studied because of their involvement in a form of hereditary melanoma, so it is well known that the products of these genes inhibit protein kinases that play a role in cell cycles or growth. In animal models, knocking out these genes in a mouse produces diabetes.
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Last Updated: July 4, 2011