Document Detail


Maternal and infant gene-folate interactions and the risk of neural tube defects.
MedLine Citation:
PMID:  22903727     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Analee J Etheredge; Richard H Finnell; Suzan L Carmichael; Edward J Lammer; Huiping Zhu; Laura E Mitchell; Gary M Shaw
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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.
Affiliation:
Texas A&M System Health Science Center Institute of Biosciences and Technology, Houston, USA.
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MeSH Terms
Descriptor/Qualifier:
Adult
Case-Control Studies
Dietary Supplements
Female
Folic Acid / administration & dosage,  metabolism*
Gene-Environment Interaction*
Genetic Association Studies
Genetic Predisposition to Disease
Humans
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
ID/Acronym/Agency:
F31 NS056777/NS/NINDS NIH HHS; R01 NS050249/NS/NINDS NIH HHS; R01 NS050249/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/Proteins; 59-30-3/Folic Acid; EC 1.5.1.5/MTHFD1 protein, human; EC 1.5.1.5/Methylenetetrahydrofolate Dehydrogenase (NADP)
Comments/Corrections

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


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