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dc.contributor.authorMOLLOY, ANNE MARIE
dc.contributor.authorSCOTT, JOHN MARTIN
dc.date.accessioned2009-11-04T09:31:34Z
dc.date.available2009-11-04T09:31:34Z
dc.date.issued2006
dc.date.submitted2006en
dc.identifier.citationA. Parle-McDermott, P.N. Kirke, J.L.Mills, A.M. Molloy, C.Cox, VB. O'leary, F. Pangilinan, M. Conley, L. Cleary, L.C. Brody, J.M. Scott. `Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population? in European Journal of Human Genetics, 14, (6), 2006, pp 768 - 772en
dc.identifier.otherYen
dc.identifier.otherY
dc.identifier.other43989
dc.identifier.urihttp://hdl.handle.net/2262/34494
dc.descriptionPUBLISHEDen
dc.description.abstractThe risk of neural tube defects (NTDs) is known to have a significant genetic component that could act through either the NTD patient and/or maternal genotype. The success of folic acid supplementation in NTD prevention has focused attention on polymorphisms within folate-related genes. We previously identified the 1958G>A (R653Q) polymorphism of the trifunctional enzyme MTHFD1 (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase; often referred to as 'C1 synthase') as a maternal risk for NTDs, but this association remains to be verified in a separate study to rule out a chance finding. To exclude this possibility, we genotyped an independent sample of mothers with a history of an NTD-affected pregnancy derived from the same Irish population. In this sample there was a significant excess of 1958AA homozygote mothers of NTD cases (n=245) compared to controls (n=770). The direction and magnitude of risk (odds ratio 1.49 (1.07?2.09), P=0.019) is consistent with our earlier finding. Sequencing of the MTHFD1 gene revealed that this association is not being driven by another common variant within the coding region. We have established that the MTHFD1 1958G>A polymorphism has a significant role in influencing a mother's risk of having an NTD-affected pregnancy in the Irish population.en
dc.format.extent82005 bytes
dc.format.extent768en
dc.format.extent772en
dc.format.mimetypeapplication/pdf
dc.language.isoenen
dc.publisherNature Publishing Groupen
dc.relation.ispartofseriesEuropean Journal of Human Geneticsen
dc.relation.ispartofseries14en
dc.relation.ispartofseries6en
dc.rightsYen
dc.subjectfolate, NTD, spina bifida, MTHFD1, C1 synthase, Irishen
dc.titleConfirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population.en
dc.typeJournal Articleen
dc.contributor.sponsorHealth Research Board
dc.type.supercollectionscholarly_publicationsen
dc.type.supercollectionrefereed_publicationsen
dc.identifier.peoplefinderurlhttp://people.tcd.ie/amolloy
dc.identifier.rssurihttp://dx.doi.org/10.1038/sj.ejhg.5201603


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