|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
1
|
|
pubmed:dateCreated |
2005-10-6
|
|
pubmed:abstractText |
Hyperhomocysteinemia is frequently associated with congenital defects of the heart and neural tube. A common missense mutation in the MTHFR gene (C to T substitution at position 677 changing valine to alanine) produces a variant with reduced enzymatic action, resulting in higher plasma levels of homocysteine. The aim of this study is to investigate whether MTHFR C677T functional genetic variant is associated with an increased risk of congenital heart disease (CHD) development using a family-based case-control design and the Transmission Disequilibrium Test (TDT) approach.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Oct
|
|
pubmed:issn |
0167-5273
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:day |
20
|
|
pubmed:volume |
105
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
15-8
|
|
pubmed:dateRevised |
2006-7-12
|
|
pubmed:meshHeading |
pubmed-meshheading:16207540-Algorithms,
pubmed-meshheading:16207540-Alleles,
pubmed-meshheading:16207540-Brazil,
pubmed-meshheading:16207540-Case-Control Studies,
pubmed-meshheading:16207540-Chi-Square Distribution,
pubmed-meshheading:16207540-Coronary Disease,
pubmed-meshheading:16207540-Cross-Sectional Studies,
pubmed-meshheading:16207540-Family Health,
pubmed-meshheading:16207540-Female,
pubmed-meshheading:16207540-Gene Frequency,
pubmed-meshheading:16207540-Genetic Predisposition to Disease,
pubmed-meshheading:16207540-Genotype,
pubmed-meshheading:16207540-Heart Defects, Congenital,
pubmed-meshheading:16207540-Humans,
pubmed-meshheading:16207540-Linkage Disequilibrium,
pubmed-meshheading:16207540-Male,
pubmed-meshheading:16207540-Methylenetetrahydrofolate Reductase (NADPH2),
pubmed-meshheading:16207540-Mutation, Missense,
pubmed-meshheading:16207540-Polymorphism, Genetic
|
|
pubmed:year |
2005
|
|
pubmed:articleTitle |
Lack of evidence of association between MTHFR C677T polymorphism and congenital heart disease in a TDT study design.
|
|
pubmed:affiliation |
Laboratory of Genetics and Molecular Cardiology, Heart Institute, São Paulo University Medical School, São Paulo, Brazil. lbmpereira@incor.usp.br
|
|
pubmed:publicationType |
Journal Article
|
