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

Callaerts, Patrick, Moradi Marjaneh, Mahdi, Kirk, Edwin P., Posch, Maximilian G., Ozcelik, Cemil, Berger, Felix, Hetzer, Roland, Otway, Robyn, Butler, Tanya L., Blue, Gillian M., Griffiths, Lyn R., Fatkin, Diane, Martinson, Jeremy J., Winlaw, David S., Feneley, Michael P., & Harvey, Richard P. (2011) Investigation of Association between PFO complicated by cryptogenic stroke and a common variant of the cardiac transcription factor GATA4. PLoS ONE, 6(6), e20711-e20711.

View at publisher (open access)

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.

Impact and interest:

1 citations in Scopus
Search Google Scholar™
1 citations in Web of Science®

Citation counts are sourced monthly from Scopus and Web of Science® citation databases.

These databases contain citations from different subsets of available publications and different time periods and thus the citation count from each is usually different. Some works are not in either database and no count is displayed. Scopus includes citations from articles published in 1996 onwards, and Web of Science® generally from 1980 onwards.

Citations counts from the Google Scholar™ indexing service can be viewed at the linked Google Scholar™ search.

Full-text downloads:

150 since deposited on 16 Sep 2013
17 in the past twelve months

Full-text downloads displays the total number of times this work’s files (e.g., a PDF) have been downloaded from QUT ePrints as well as the number of downloads in the previous 365 days. The count includes downloads for all files if a work has more than one.

ID Code: 62551
Item Type: Journal Article
Refereed: Yes
DOI: 10.1371/journal.pone.0020711
ISSN: 1932-6203
Divisions: Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2011 the authors
Deposited On: 16 Sep 2013 02:59
Last Modified: 31 Oct 2013 02:19

Export: EndNote | Dublin Core | BibTeX

Repository Staff Only: item control page