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Unexpected, Possible Genetic Connection Between Diabetes and Heart Disease
Genome-Wide Association Studies Seminar

May 1, 2007

GWAS Science Reporter's Seminar VideoRealPlayer
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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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Time Code Quote from Dr. Collins


The biggest surprise for me was seeing these two papers, which are the ones that are coming out on Thursday. So here we have two groups. They are not looking at diabetes. They are looking at coronary artery disease, myocardial infarction. And they are doing their genome-wide association study with no preconceived idea of what they are gong to find, following the same strategy, and what do they find?


We are in the same place in the genome. Here is CDKN2B and 2A, their signal, exactly in the same place as where we found an association for type 2 diabetes. And yet these authors, and I don't know any more about this than what I read in their papers, say that they looked carefully to make sure that they were not confounding their results by having their coronary artery patients all being diabetics. And they said that is not the case. They say this is an independent risk factor for coronary artery disease.


Now I know when they wrote this paper, they didn't know about the diabetes results. When we wrote our paper, we didn't know about the coronary artery results. So there is going to be a huge storm of interest here over the next few days as people try to figure out what happened here.


How can one region of the genome, and it is not even containing a gene, contain risk factors for both diabetes and heart attack, when they don't seem to be heart attack on the basis of diabetes?


I think this is a stunner. This is like the seat of the soul of the genome. It seems like this one place carries all of that weight for two very common and very dangerous diseases.


I never would have guessed that we would end up coalescing, zeroing in on the same 50,000 base pairs out of 3 billion that seems to contain that signal.


So I don't know. That will be a fun one to figure out how to write about. But I think that is a big part of the story. There's ... not only did they find a variation that is associated with heart disease, but in the very same place, where a week before, three different groups found the same association with a different disease.

Last updated: July 04, 2011