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Investigation of association between PFO complicated by cryptogenic stroke and a common variant of the cardiac transcription factor GATA4

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Item Type:Article
Title:Investigation of association between PFO complicated by cryptogenic stroke and a common variant of the cardiac transcription factor GATA4
Creators Name:Moradi Marjaneh, M. and Kirk, E.P. and Posch, M.G. and Ozcelik, C. and Berger, F. and Hetzer, R. and Otway, R. and Butler, T.L. and Blue, G.M. and Griffiths, L.R. and Fatkin, D. and Martinson, J.J. and Winlaw, D.S. and Feneley, M.P. and Harvey, R.P.
Abstract:Patent foramen ovale (PFO) is associated with clinical conditions including cryptogenic stroke, migraine and varicose veins. Data from studies in humans and mouse suggest that PFO and the secundum form of atrial septal defect (ASDII) exist in an anatomical continuum of septal dysmorphogenesis with a common genetic basis. Mutations in multiple members of the evolutionarily conserved cardiac transcription factor network, including GATA4, cause or predispose to ASDII and PFO. Here, we assessed whether the most prevalent variant of the GATA4 gene, S377G, was significantly associated with PFO or ASD. Our analysis of world indigenous populations showed that GATA4 S377G was largely Caucasian-specific, and so subjects were restricted to those of Caucasian descent. To select for patients with larger PFO, we limited our analysis to those with cryptogenic stroke in which PFO was a subsequent finding. In an initial study of Australian subjects, we observed a weak association between GATA4 S377G and PFO/Stroke relative to Caucasian controls in whom ASD and PFO had been excluded (OR = 2.16; p = 0.02). However, in a follow up study of German Caucasians no association was found with either PFO or ASD. Analysis of combined Australian and German data confirmed the lack of a significant association. Thus, the common GATA4 variant S377G is likely to be relatively benign in terms of its participation in CHD and PFO/Stroke.
Keywords:Adolescent, Adult, Child, GATA4 Transcription Factor, Genetic Polymorphism, Infant, Myocardium, Newborn Infant, Patent Foramen Ovale, Preschool Child, Stroke, Young Adult
Source:PLoS ONE
Publisher:Public Library of Science
Page Range:e20711
Date:6 June 2011
Official Publication:https://doi.org/10.1371/journal.pone.0020711
PubMed:View item in PubMed

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