GATA2 is associated with familial early-onset coronary artery disease.

Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Connelly, JJ; Wang, T; Cox, JE; Haynes, C; Wang, L; Shah, SH; Crosslin, DR; Hale, AB; Nelson, S; Crossman, DC; Granger, CB; Haines, JL; Jones, CJH; Vance, JM; Goldschmidt-Clermont, PJ; Kraus, WE; Hauser, ER; Gregory, SG

Published Date

  • August 25, 2006

Published In

Volume / Issue

  • 2 / 8

Start / End Page

  • e139 -

PubMed ID

  • 16934006

Electronic International Standard Serial Number (EISSN)

  • 1553-7404

Digital Object Identifier (DOI)

  • 10.1371/journal.pgen.0020139

Language

  • eng

Conference Location

  • United States