Source:http://linkedlifedata.com/resource/pubmed/id/16256389
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
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| pubmed:dateCreated |
2005-12-30
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| pubmed:abstractText |
Folate binding protein 1 (Folr1) knockout mice with low maternal folate concentrations have been shown to be excellent animal models for human folate-responsive neural tube defects (NTDs). Previous studies using the Folr1 knockout mice revealed that maternal folate supplementation up-regulates the expression of the PCMT1 gene in Folr1 nullizygous neural tube tissue during neural tube closure. PCMT1 encodes the protein repair enzyme l-isoaspartate (d-aspartate) O-methyltransferase (PIMT) that converts abnormal d-aspartyl and l-isoaspartyl residues to the normal l-aspartyl form. PIMT is known to protect certain neural cells from Bax-induced apoptosis. Pcmt1-deficient mice present with abnormal AdoMet/AdoHcy homeostasis. We hypothesized that a known functional polymorphism (Ile120Val) in the human PCMT1 gene is associated with an increased risk of folate-responsive human NTDs. A case-control study was conducted to investigate a possible association between this polymorphism and risk of spina bifida. Compared to the Ile/Ile and Ile/Val genotypes, the homozygous Val/Val genotype showed decreased risk for spina bifida (adjusted odds ratio=0.6, 95% confidence interval: 0.4-0.9). Our results showed that the Ile120Val polymorphism of PCMT1 gene is a genetic modifier for the risk of spina bifida. Val/Val genotype was associated with a reduction in risk for spina bifida.
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| pubmed:grant | |
| 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 |
Jan
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| pubmed:issn |
1096-7192
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| pubmed:author | |
| pubmed:issnType |
Print
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| pubmed:volume |
87
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
66-70
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| pubmed:dateRevised |
2011-6-14
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| pubmed:meshHeading |
pubmed-meshheading:16256389-Adult,
pubmed-meshheading:16256389-California,
pubmed-meshheading:16256389-Case-Control Studies,
pubmed-meshheading:16256389-Cohort Studies,
pubmed-meshheading:16256389-Dietary Supplements,
pubmed-meshheading:16256389-European Continental Ancestry Group,
pubmed-meshheading:16256389-Folic Acid,
pubmed-meshheading:16256389-Genetic Predisposition to Disease,
pubmed-meshheading:16256389-Hispanic Americans,
pubmed-meshheading:16256389-Humans,
pubmed-meshheading:16256389-Infant, Newborn,
pubmed-meshheading:16256389-Polymorphism, Genetic,
pubmed-meshheading:16256389-Protein D-Aspartate-L-Isoaspartate Methyltransferase,
pubmed-meshheading:16256389-Risk,
pubmed-meshheading:16256389-Spinal Dysraphism
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| pubmed:year |
2006
|
| pubmed:articleTitle |
A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifida.
|
| pubmed:affiliation |
Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A&M University System Health Science Center, Houston, TX 77030, USA.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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