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GATA2 Is Associated with Familial Early-Onset Coronary Artery Disease

Connelly, J.J., Wang, T., Cox, J.E., Haynes, C., Wang, L., Shah, S.H., Crosslin, D.R., Hale, A.B., Nelson, S., Crossman, D.C., Granger, C.B., Haines, J.L., Jones, C.J.H., Vance, J.M., Goldschmidt-Clermont, P.J., Kraus, W.E., Hauser, E.R. and Gregory, S.G. (2006) GATA2 Is Associated with Familial Early-Onset Coronary Artery Disease. PLoS Genetics, 2 (8). e139. ISSN 1553-7390

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Abstract

The transcription factor GATA2 plays an essential role in the establishment and maintenance of adult hematopoiesis. It is expressed in hematopoietic stem cells, as well as the cells that make up the aortic vasculature, namely aortic endothelial cells and smooth muscle cells. We have shown that GATA2 expression is predictive of location within the thoracic aorta; location is suggested to be a surrogate for disease susceptibility. The GATA2 gene maps beneath the Chromosome 3q linkage peak from our family-based sample set (GENECARD) study of early-onset coronary artery disease. Given these observations, we investigated the relationship of several known and novel polymorphisms within GATA2 to coronary artery disease. We identified five single nucleotide polymorphisms that were significantly associated with early-onset coronary artery disease in GENECARD. These results were validated by identifying significant association of two of these single nucleotide polymorphisms in an independent case-control sample set that was phenotypically similar to the GENECARD families. These observations identify GATA2 as a novel susceptibility gene for coronary artery disease and suggest that the study of this transcription factor and its downstream targets may uncover a regulatory network important for coronary artery disease inheritance.

Item Type: Article
Copyright, Publisher and Additional Information: Copyright: © 2006 Connelly et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine (Sheffield) > Department of Cardiovascular Science
Depositing User: Sheffield Import
Date Deposited: 27 Oct 2009 15:56
Last Modified: 27 Oct 2009 15:56
Published Version: http://dx.doi.org/10.1371/journal.pgen.0020139
Status: Published
Publisher: Public Library of Science
Identification Number: doi: 10.1371/journal.pgen.0020139
URI: http://eprints.whiterose.ac.uk/id/eprint/10041

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