Gene-Gene Interactions in the Folate Metabolic Pathway and the Risk of Conotruncal Heart Defects
Joint Authors
Lupo, Philip J.
Mitchell, Laura E.
Goldmuntz, Elizabeth
Source
Issue
Vol. 2010, Issue 2010 (31 Dec. 2009), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2009-12-09
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Conotruncal and related heart defects (CTRD) are common, complex malformations.
Although there are few established risk factors, there is evidence that genetic variation in the folate metabolic pathway influences CTRD risk.
This study was undertaken to assess the association between inherited (i.e., case) and maternal gene-gene interactions in this pathway and the risk of CTRD.
Case-parent triads (n=727), ascertained from the Children's Hospital of Philadelphia, were genotyped for ten functional variants of nine folate metabolic genes.
Analyses of inherited genotypes were consistent with the previously reported association between MTHFR A1298C and CTRD (adjusted P=.02), but provided no evidence that CTRD was associated with inherited gene-gene interactions.
Analyses of the maternal genotypes provided evidence of a MTHFR C677T/CBS 844ins68 interaction and CTRD risk (unadjusted P=.02).
This association is consistent with the effects of this genotype combination on folate-homocysteine biochemistry but remains to be confirmed in independent study populations.
American Psychological Association (APA)
Lupo, Philip J.& Goldmuntz, Elizabeth& Mitchell, Laura E.. 2009. Gene-Gene Interactions in the Folate Metabolic Pathway and the Risk of Conotruncal Heart Defects. BioMed Research International،Vol. 2010, no. 2010, pp.1-7.
https://search.emarefa.net/detail/BIM-989045
Modern Language Association (MLA)
Lupo, Philip J.…[et al.]. Gene-Gene Interactions in the Folate Metabolic Pathway and the Risk of Conotruncal Heart Defects. BioMed Research International No. 2010 (Dec. 2010), pp.1-7.
https://search.emarefa.net/detail/BIM-989045
American Medical Association (AMA)
Lupo, Philip J.& Goldmuntz, Elizabeth& Mitchell, Laura E.. Gene-Gene Interactions in the Folate Metabolic Pathway and the Risk of Conotruncal Heart Defects. BioMed Research International. 2009. Vol. 2010, no. 2010, pp.1-7.
https://search.emarefa.net/detail/BIM-989045
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-989045