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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2003-5-5
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pubmed:abstractText |
The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects (NTDs). The relationship between a second MTHFR polymorphism (1298A-->C) and NTD risk has been inconsistent between studies. We genotyped 276 complete NTD triads (mother, father and child affected with an NTD) and 256 controls for MTHFR 1298A-->C. Our findings do not support a role for the 1298A-->C polymorphism in NTDs (OR 0.85 (95% CI 0.49-1.47), p= 0.55), nor do we observe a combined effect with the 677C-->T polymorphism.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1434-5161
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pubmed:author |
pubmed-author:BrodyLawrence CLC,
pubmed-author:ConleyMaryM,
pubmed-author:CoxChristopherC,
pubmed-author:KirkePeadar NPN,
pubmed-author:MillsJames LJL,
pubmed-author:MolloyAnne MAM,
pubmed-author:O'LearyValerie BVB,
pubmed-author:PangilinanFaithF,
pubmed-author:Parle-McDermottAnneA,
pubmed-author:ScottJohn MJM,
pubmed-author:SwansonDeborah ADA
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pubmed:issnType |
Print
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pubmed:volume |
48
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
190-3
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:12730722-Case-Control Studies,
pubmed-meshheading:12730722-DNA Mutational Analysis,
pubmed-meshheading:12730722-Female,
pubmed-meshheading:12730722-Gene Frequency,
pubmed-meshheading:12730722-Genetic Predisposition to Disease,
pubmed-meshheading:12730722-Genotype,
pubmed-meshheading:12730722-Humans,
pubmed-meshheading:12730722-Ireland,
pubmed-meshheading:12730722-Male,
pubmed-meshheading:12730722-Methylenetetrahydrofolate Reductase (NADPH2),
pubmed-meshheading:12730722-Neural Tube Defects,
pubmed-meshheading:12730722-Polymorphism, Genetic
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pubmed:year |
2003
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pubmed:articleTitle |
Analysis of the MTHFR 1298A-->C and 677C-->T polymorphisms as risk factors for neural tube defects.
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pubmed:affiliation |
Department of Biochemistry, Trinity College Dublin, Dublin, Ireland. parlema@tcd.ie
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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