Document Detail

Maternal and infant gene-folate interactions and the risk of neural tube defects.
MedLine Citation:
PMID:  22903727     Owner:  NLM     Status:  MEDLINE    
Neural tube defects (NTDs) are common, serious malformations with a complex etiology that suggests involvement of both genetic and environmental factors. The authors evaluated maternal or offspring folate-related gene variants and interactions between the gene variants and maternal intake of folates on the risk of NTDs in their offspring. A case-control study was conducted on mothers and/or their fetuses and infants who were born in California from 1999 to 2003 with an NTD (cases n = 222, including 24 mother-infant pairs) or without a major malformation (controls n = 454, including 186 mother-infant pairs). Maternal intake of folates was assessed by food frequency questionnaire and genotyping was performed on samples from mothers and infants. For mothers in the lowest folate-intake group, risk of NTDs in offspring was significantly decreased for maternal MTHFR SNPs rs1476413, rs1801131, and rs1801133 (odds ratio [OR] = 0.55, 80% confidence interval [CI]: 0.20, 1.48; OR = 0.58, 80% CI: 0.24, 1.43; OR = 0.69, 80% CI: 0.41, 1.17, respectively), and TYMS SNPs rs502396 and rs699517 (OR = 0.91, 80% CI: 0.53, 1.56; OR = 0.70, 80% CI: 0.38, 1.29). A gene-only effect was observed for maternal SHMT1 SNP rs669340 (OR = 0.69, 95% CI: 0.49, 0.96). When there was low maternal folate intake, risk of NTDs was significantly increased for infant MTHFD1 SNPs rs2236224, rs2236225, and rs11627387 (OR = 1.58, 80% CI: 0.99, 2.51; OR = 1.53, 80% CI: 0.95, 2.47; OR = 4.25, 80% CI: 2.33, 7.75, respectively) and SHMT1 SNP rs12939757 (OR = 2.01, 80% CI: 1.20, 3.37), but decreased for TYMS SNP rs2847153 (OR = 0.73, 80% CI: 0.37, 1.45). Although power to detect interaction effects was low for this birth defects association study, the gene-folate interactions observed in this study represent preliminary findings that will be useful for informing future studies on the complex etiology of NTDs.
Analee J Etheredge; Richard H Finnell; Suzan L Carmichael; Edward J Lammer; Huiping Zhu; Laura E Mitchell; Gary M Shaw
Related Documents :
12417237 - Dc-eeg discloses prominent, very slow activity patterns during sleep in preterm infants.
19109057 - Regional electroencephalogram (eeg) spectral power and hemispheric coherence in young a...
22462517 - Dietary patterns in infancy and their associations with maternal socio-economic and lif...
15735587 - Preterm neonatal neurological examination.
18280677 - Apolipoprotein e e4 and its prevalence in early childhood death due to sudden infant de...
19703327 - Supplementation of dha but not dha with arachidonic acid during pregnancy and lactation...
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural     Date:  2012-08-17
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  158A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-09-21     Completed Date:  2013-02-19     Revised Date:  2013-10-17    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2439-46     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Wiley Periodicals, Inc.
Texas A&M System Health Science Center Institute of Biosciences and Technology, Houston, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Case-Control Studies
Dietary Supplements
Folic Acid / administration & dosage,  metabolism*
Gene-Environment Interaction*
Genetic Association Studies
Genetic Predisposition to Disease
Infant, Newborn
Maternal Nutritional Physiological Phenomena*
Methylenetetrahydrofolate Dehydrogenase (NADP) / genetics*
Neural Tube Defects / epidemiology,  ethnology,  genetics*
Polymorphism, Single Nucleotide
Proteins / genetics
Risk Factors
Young Adult
Grant Support
Reg. No./Substance:
0/Proteins; 59-30-3/Folic Acid; EC protein, human; EC Dehydrogenase (NADP)

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

Previous Document:  Perspective from the heart: The potential of human pluripotent stem cell-derived cardiomyocytes.
Next Document:  Eculizumab therapy in a child with hemolytic uremic syndrome and CFI mutation.