Source:http://linkedlifedata.com/resource/pubmed/id/17486595
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
11
|
| pubmed:dateCreated |
2007-5-28
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| pubmed:abstractText |
Periconceptional maternal folic acid supplementation can prevent up to 70% of pregnancies affected with neural tube defects (NTDs), including spina bifida. This has focused attention on folate-related genes such as dihydrofolate reductase (DHFR) in a bid to identify the genetic factors that influence NTD risk through either the fetal or maternal genotype. We considered a novel intronic 19-bp deletion polymorphism and two polymorphisms within the 3' untranslated region (721A>T and 829C>T) of the DHFR gene as candidates for NTD risk. We studied NTD cases (n=283), mothers of cases (n=280), fathers of cases (n=279), and controls (n=256). We did not find the DHFR 829C>T polymorphism to be variable within the Irish population. The 19-bp intron deletion and the 721A>T polymorphisms were found to be in linkage disequilibrium. In contrast to a previous study, the 19-bp intron deletion allele did show a significant protective effect in mothers of NTD cases when present in one (relative risk 0.59 [95%CI: 0.39-0.89], P=0.01) or two copies (relative risk 0.52 [95%CI: 0.32-0.86], P=0.01). Analysis of mRNA levels revealed a small increase in expression ( approximately 1.5-fold) associated with the 19-bp intron deletion polymorphism, but this was not significant. In conclusion, the DHFR intron 19-bp deletion allele may be a protective NTD genetic factor by increasing DHFR mRNA levels in pregnant women.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Jun
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| pubmed:issn |
1552-4825
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| pubmed:author |
pubmed-author:BrodyLawrence CLC,
pubmed-author:ConleyMaryM,
pubmed-author:GibneyEileen RER,
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:TroendleJamesJ
|
| pubmed:copyrightInfo |
Copyright (c) 2007 Wiley-Liss, Inc.
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| pubmed:issnType |
Print
|
| pubmed:day |
1
|
| pubmed:volume |
143A
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1174-80
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| pubmed:dateRevised |
2008-5-21
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| pubmed:meshHeading |
pubmed-meshheading:17486595-Base Pairing,
pubmed-meshheading:17486595-Case-Control Studies,
pubmed-meshheading:17486595-European Continental Ancestry Group,
pubmed-meshheading:17486595-Exons,
pubmed-meshheading:17486595-Female,
pubmed-meshheading:17486595-Gene Expression Regulation, Enzymologic,
pubmed-meshheading:17486595-Haplotypes,
pubmed-meshheading:17486595-Humans,
pubmed-meshheading:17486595-Introns,
pubmed-meshheading:17486595-Ireland,
pubmed-meshheading:17486595-Male,
pubmed-meshheading:17486595-Odds Ratio,
pubmed-meshheading:17486595-Polymorphism, Genetic,
pubmed-meshheading:17486595-Pregnancy,
pubmed-meshheading:17486595-RNA, Messenger,
pubmed-meshheading:17486595-Risk Factors,
pubmed-meshheading:17486595-Sequence Deletion,
pubmed-meshheading:17486595-Spinal Dysraphism,
pubmed-meshheading:17486595-Tetrahydrofolate Dehydrogenase
|
| pubmed:year |
2007
|
| pubmed:articleTitle |
The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish population.
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| pubmed:affiliation |
School of Biochemistry and Immunology, Trinity College Dublin, Dublin, Ireland. anne.parle-mcdermott@dcu.ie
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Intramural
|