Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2004-6-28
pubmed:abstractText
The 677 C --> T polymorphism in the 5-10 methylenetetrahydrofolate reductase (MTHFR) gene has been associated with nonsyndromic cleft lip with or without cleft palate (CL/P) in some populations, but not others. Previous studies (ie, case-control and transmission disequilibrium tests (TDT)) in Brazilian families with CL/P have been unable to replicate this putative association. However, our group observed a lower proportion of CT heterozygotes among the mothers of CL/P probands, suggesting that the maternal genotype for this polymorphism might influence predisposition to CL/P. In order to further examine this issue, we performed a case-control study of the 677 C --> T/MTHFR polymorphism in families with CL/P ascertained in two regions of Brazil: 172 from São Paulo (SP) and 252 from Ceará (CE). The control samples included 243 individuals from SP and 401 from CE. TDT was carried out in 102 patients with CL/P and their parents. No evidence of an association was observed between the 677 C --> T/MTHFR polymorphism and CL/P using the case-control design, while borderline significance was obtained with the TDT (P=0.055). We have also looked for an interaction between maternal MTHFR genotypes and the propositi offspring's genotypes at two candidate susceptibility loci for CL/P, TGFA and BCL3. Interestingly, we observed an interaction between the maternal MTHFR and offspring's BCL3 genotypes (OR: 2.3; 95% CI: 1.1-4.8; P=0.03) but not with the offspring's TGFA genotypes. Therefore, our results reinforce the idea that the maternal MTHFR genotype plays a significant role in susceptibility to CL/P, but its teratogenic effect depends on the genotype of the offspring.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1018-4813
pubmed:author
pubmed:issnType
Print
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
521-6
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:15054400-Adult, pubmed-meshheading:15054400-Brazil, pubmed-meshheading:15054400-Case-Control Studies, pubmed-meshheading:15054400-Cleft Lip, pubmed-meshheading:15054400-Cleft Palate, pubmed-meshheading:15054400-Female, pubmed-meshheading:15054400-Gene Frequency, pubmed-meshheading:15054400-Genetic Predisposition to Disease, pubmed-meshheading:15054400-Genotype, pubmed-meshheading:15054400-Heterozygote, pubmed-meshheading:15054400-Humans, pubmed-meshheading:15054400-Linkage Disequilibrium, pubmed-meshheading:15054400-Male, pubmed-meshheading:15054400-Methylenetetrahydrofolate Reductase (NADPH2), pubmed-meshheading:15054400-Polymorphism, Genetic, pubmed-meshheading:15054400-Proto-Oncogene Proteins, pubmed-meshheading:15054400-Transcription Factors, pubmed-meshheading:15054400-Transforming Growth Factor alpha
pubmed:year
2004
pubmed:articleTitle
Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate.
pubmed:affiliation
Human Genome Center, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
pubmed:publicationType
Journal Article