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

Jessica J. Connelly, Tianyuan Wang, Julie E. Cox, Carol Haynes, Liyong Wang, Svati H. Shah, David R. Crosslin, A. Brent Hale, Sarah Nelson, David C. Crossman, Christopher B. Granger, Jonathan L. Haines, Christopher J.H. Jones, Jeffery M Vance, Pascal Goldschmidt-Clermont, William E. Kraus, Elizabeth R. Hauser, Simon G. Gregory

Research output: Contribution to journalArticle

59 Citations (Scopus)

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.

Original languageEnglish
JournalPLoS Genetics
Volume2
Issue number8
DOIs
StatePublished - Aug 25 2006

Fingerprint

Coronary Artery Disease
polymorphism
single nucleotide polymorphism
Single Nucleotide Polymorphism
GATA2 Transcription Factor
transcription factors
hematopoiesis
Disease Susceptibility
Hematopoiesis
chest
Hematopoietic Stem Cells
aorta
Thoracic Aorta
gene
smooth muscle
myocytes
endothelial cells
Genes
chromosome mapping
Smooth Muscle Myocytes

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Ecology, Evolution, Behavior and Systematics
  • Cancer Research
  • Genetics(clinical)

Cite this

Connelly, J. J., Wang, T., Cox, J. E., Haynes, C., Wang, L., Shah, S. H., ... Gregory, S. G. (2006). GATA2 is associated with familial early-onset coronary artery disease. PLoS Genetics, 2(8). https://doi.org/10.1371/journal.pgen.0020139

GATA2 is associated with familial early-onset coronary artery disease. / Connelly, Jessica J.; Wang, Tianyuan; Cox, Julie E.; Haynes, Carol; Wang, Liyong; Shah, Svati H.; Crosslin, David R.; Hale, A. Brent; Nelson, Sarah; Crossman, David C.; Granger, Christopher B.; Haines, Jonathan L.; Jones, Christopher J.H.; Vance, Jeffery M; Goldschmidt-Clermont, Pascal; Kraus, William E.; Hauser, Elizabeth R.; Gregory, Simon G.

In: PLoS Genetics, Vol. 2, No. 8, 25.08.2006.

Research output: Contribution to journalArticle

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, P, Kraus, WE, Hauser, ER & Gregory, SG 2006, 'GATA2 is associated with familial early-onset coronary artery disease.', PLoS Genetics, vol. 2, no. 8. https://doi.org/10.1371/journal.pgen.0020139
Connelly, Jessica J. ; Wang, Tianyuan ; Cox, Julie E. ; Haynes, Carol ; Wang, Liyong ; Shah, Svati H. ; Crosslin, David R. ; Hale, A. Brent ; Nelson, Sarah ; Crossman, David C. ; Granger, Christopher B. ; Haines, Jonathan L. ; Jones, Christopher J.H. ; Vance, Jeffery M ; Goldschmidt-Clermont, Pascal ; Kraus, William E. ; Hauser, Elizabeth R. ; Gregory, Simon G. / GATA2 is associated with familial early-onset coronary artery disease. In: PLoS Genetics. 2006 ; Vol. 2, No. 8.
@article{7169281efa4945239a3917c22d956684,
title = "GATA2 is associated with familial early-onset coronary artery disease.",
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.",
author = "Connelly, {Jessica J.} and Tianyuan Wang and Cox, {Julie E.} and Carol Haynes and Liyong Wang and Shah, {Svati H.} and Crosslin, {David R.} and Hale, {A. Brent} and Sarah Nelson and Crossman, {David C.} and Granger, {Christopher B.} and Haines, {Jonathan L.} and Jones, {Christopher J.H.} and Vance, {Jeffery M} and Pascal Goldschmidt-Clermont and Kraus, {William E.} and Hauser, {Elizabeth R.} and Gregory, {Simon G.}",
year = "2006",
month = "8",
day = "25",
doi = "10.1371/journal.pgen.0020139",
language = "English",
volume = "2",
journal = "PLoS Genetics",
issn = "1553-7390",
publisher = "Public Library of Science",
number = "8",

}

TY - JOUR

T1 - GATA2 is associated with familial early-onset coronary artery disease.

AU - Connelly, Jessica J.

AU - Wang, Tianyuan

AU - Cox, Julie E.

AU - Haynes, Carol

AU - Wang, Liyong

AU - Shah, Svati H.

AU - Crosslin, David R.

AU - Hale, A. Brent

AU - Nelson, Sarah

AU - Crossman, David C.

AU - Granger, Christopher B.

AU - Haines, Jonathan L.

AU - Jones, Christopher J.H.

AU - Vance, Jeffery M

AU - Goldschmidt-Clermont, Pascal

AU - Kraus, William E.

AU - Hauser, Elizabeth R.

AU - Gregory, Simon G.

PY - 2006/8/25

Y1 - 2006/8/25

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=39049179878&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=39049179878&partnerID=8YFLogxK

U2 - 10.1371/journal.pgen.0020139

DO - 10.1371/journal.pgen.0020139

M3 - Article

C2 - 16934006

AN - SCOPUS:33748053016

VL - 2

JO - PLoS Genetics

JF - PLoS Genetics

SN - 1553-7390

IS - 8

ER -