Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2010-1-29
pubmed:abstractText
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.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-10069253, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-10090904, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-10362511, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-10363126, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-10517251, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-10631155, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-11204591, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-11310576, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-11386852, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-11472746, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-12194912, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-12694231, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-15951337, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-16093287, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-16100725, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-16816108, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-16969375, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-17476281, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-17519397, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-17519398, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-17999363, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-18398434, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-18497429, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-19022952, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-19156174, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-20031554, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-7647779, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-8935478, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-9367794, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-9529360, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-9712534, http://linkedlifedata.com/resource/pubmed/commentcorrection/20111745-9719624
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1110-7251
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
2010
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
630940
pubmed:dateRevised
2010-9-27
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects.
pubmed:affiliation
Human Genetics Center, Division of Epidemiology and Disease Control, The University of Texas School of Public Health, 1200 Herman Pressler Drive, Houston, TX 77030, USA.
pubmed:publicationType
Journal Article, Research Support, N.I.H., Extramural