Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2003-11-17
pubmed:abstractText
Neural tube defects (NTDs) have a well-established genetic basis, although no single genetic factor has been identified as a major risk factor in NTD susceptibility. A large number of association studies have been conducted to investigate the possibility that NTD susceptibility is linked to polymorphic variation in genes involved in early embryonic development or in the absorption or metabolism of folate, a nutrient that has been clearly associated with a reduction in the risk of NTD pregnancy. A study of three candidate gene polymorphisms at loci implicated in folate absorption and metabolism has been conducted on a population of 211 mothers of a heterogeneous mix of NTD phenotypes: 59% spina bifida aperta (SBA), 20.3% spina bifida occulta (SBO), 17% anencephaly, and 3.7% other NTD. Allele and genotype frequencies were stratified according to offspring NTD phenotype, and variation in the level of NTD risk was associated with different phenotypes. All the three variants (MTHFR 677C > T, GCPII 1561C > T, and RFC-1 80G > A) were shown to significantly influence the risk of anencephalic pregnancy. In addition, the MTHFR 677C > T variant conferred a modest protective effect in SBO mothers and the total NTD mother group, but not in SBA mothers. The RFC-1 80G > A variant elevated the risk of SBO and anencephalic pregnancy. The findings of this study suggest that NTD phenotypic heterogeneity may help explain the mixed findings of previous association studies and that different polymorphisms may hold differing degrees of significance for the various NTD phenotypes.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
64
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
424-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:14616766-Base Sequence, pubmed-meshheading:14616766-Carrier Proteins, pubmed-meshheading:14616766-Case-Control Studies, pubmed-meshheading:14616766-Cohort Studies, pubmed-meshheading:14616766-Female, pubmed-meshheading:14616766-Gene Frequency, pubmed-meshheading:14616766-Genetic Heterogeneity, pubmed-meshheading:14616766-Genetic Predisposition to Disease, pubmed-meshheading:14616766-Glutamate Carboxypeptidase II, pubmed-meshheading:14616766-Humans, pubmed-meshheading:14616766-Membrane Proteins, pubmed-meshheading:14616766-Membrane Transport Proteins, pubmed-meshheading:14616766-Methylenetetrahydrofolate Reductase (NADPH2), pubmed-meshheading:14616766-Neural Tube Defects, pubmed-meshheading:14616766-Odds Ratio, pubmed-meshheading:14616766-Phenotype, pubmed-meshheading:14616766-Polymorphism, Genetic, pubmed-meshheading:14616766-Pregnancy, pubmed-meshheading:14616766-Risk
pubmed:year
2003
pubmed:articleTitle
Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype.
pubmed:affiliation
Genetics Department, Westlakes Research Institute, Westlakes Science and Technology Park, Cumbria, UK; West Cumberland Hospital, Whitehaven, Cumbria, UK. caroline.relton@westlakes.ac.uk
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't