Document Detail

Infant C677T MTHFR polymorphism and severe mental retardation.
MedLine Citation:
PMID:  17149733     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: We investigated whether infants with homozygous genotype TT of the MTHFR gene were at increased risk of severe mental retardation. METHODS: One hundred children with severe mental retardation (cases) were investigated from a large geographic-based study of infants born in California in 1992-1993. Cases were compared to 743 randomly selected nonmalformed control infants born in California during 1987-1991. DNA was extracted from newborn screening filter papers. Cases and controls were genotyped TT if homozygous for the MTHFR C677T allele, CT if heterozygous for the C677T allele, and CC if homozygous for the C677 (wild type) allele. RESULTS: Overall, case and control infants had similar percentages of TT and CT genotypes. Percentages between cases and controls differed somewhat across race/ethnic groups. Elevated ORs of 1.9 (95% CI: 0.7-5.0) and 2.6 (95% CI: 1.1-5.8) were observed for the TT and CT genotypes, respectively, among Hispanic children. Observed results were not substantially altered for analyses that removed 41 case children who also had structural birth defects. CONCLUSIONS: Folate-related mechanisms are important to investigate for etiologies of birth defects, and such lines of inquiry may be revealing for mental retardation given the relationships between mental retardation and birth defects and potential relationships between folate, DNA methylation, and mental retardation.
Gary M Shaw; Laura Jelliffe-Pawlowski; Verne Nelson; Huiping Zhu; John A Harris; Richard H Finnell
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Publication Detail:
Type:  Comparative Study; Journal Article    
Journal Detail:
Title:  Birth defects research. Part A, Clinical and molecular teratology     Volume:  79     ISSN:  1542-0752     ISO Abbreviation:  Birth Defects Res. Part A Clin. Mol. Teratol.     Publication Date:  2007 Jan 
Date Detail:
Created Date:  2007-01-10     Completed Date:  2007-04-09     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  101155107     Medline TA:  Birth Defects Res A Clin Mol Teratol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  24-6     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2006 Wiley-Liss, Inc.
California Birth Defects Monitoring Program, Berkeley, California 94710, USA.
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MeSH Terms
Congenital Abnormalities / etiology
Folic Acid / administration & dosage
Genetic Predisposition to Disease
Infant, Newborn
Mental Retardation / epidemiology,  ethnology,  genetics*
Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
Polymorphism, Single Nucleotide*
Risk Factors
Reg. No./Substance:
59-30-3/Folic Acid; EC Reductase (NADPH2)

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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