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

Marjaneh, MM and Kirk, EP and Posch, MG and Ozcelik, C and Berger, F and Hetzer, R and Otway, R and Butler, TL and Blue, GM and Griffiths, LR and Fatkin, D and Martinson, JJ and Winlaw, DS and Feneley, MP and Harvey, RP (2011) Investigation of association between PFO complicated by cryptogenic stroke and a common variant of the cardiac transcription factor GATA4. PLoS ONE, 6 (6).

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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. © 2011 Moradi Marjaneh et al.


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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Marjaneh, MM
Kirk, EP
Posch, MG
Ozcelik, C
Berger, F
Hetzer, R
Otway, R
Butler, TL
Blue, GM
Griffiths, LR
Fatkin, D
Martinson, JJjmartins@pitt.eduJMARTINS
Winlaw, DS
Feneley, MP
Harvey, RP
Contributors:
ContributionContributors NameEmailPitt UsernameORCID
EditorCallaerts, PatrickUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Date: 13 June 2011
Date Type: Publication
Journal or Publication Title: PLoS ONE
Volume: 6
Number: 6
DOI or Unique Handle: 10.1371/journal.pone.0020711
Schools and Programs: Graduate School of Public Health > Infectious Diseases and Microbiology
Refereed: Yes
MeSH Headings: Adolescent; Adult; Aged; Child; Child, Preschool; Female; Foramen Ovale, Patent--complications; Foramen Ovale, Patent--genetics; Foramen Ovale, Patent--ultrasonography; GATA4 Transcription Factor--genetics; Humans; Infant; Infant, Newborn; Male; Middle Aged; Myocardium--metabolism; Polymorphism, Genetic; Stroke--complications; Stroke--genetics; Young Adult
Other ID: NLM PMC3108965
PubMed Central ID: PMC3108965
PubMed ID: 21673957
Date Deposited: 05 Sep 2012 16:16
Last Modified: 02 Feb 2019 15:55
URI: http://d-scholarship.pitt.edu/id/eprint/13867

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