Document Detail

Analysis of the EPHX1 113 polymorphism and GSTM1 homozygous null polymorphism and oral clefting associated with maternal smoking.
MedLine Citation:
PMID:  11471167     Owner:  NLM     Status:  MEDLINE    
Maternal cigarette smoking during the first trimester of pregnancy is associated with an increased risk of having a child with an oral cleft. Compounds present in cigarette smoke undergo bioactivation and/or detoxication. Phase I of this process results in the formation of reactive epoxides, which can form DNA adducts initiating and promoting mutagenesis, carcinogenesis, or teratogenesis. Microsomal epoxide hydrolase (mEH; gene symbol EPHX1) catalyzes hydrolysis of epoxides. Phase II involves attachment of a moiety (e.g., glutathione) to the compound mediated by a variety of enzymes, including glutathione S-transferase, generally resulting in a decreased reactivity. Recent studies suggest an association between the EPHX1 codon 113 polymorphism or homozygous null GSTM1 allele and the risk of carcinogenesis, emphysema, phenytoin-associated oral clefting, and the risk of spontaneous abortion. This study explores the association between EPHX1 codon 113 and homozygous null GSTM1 genotypes and oral clefting among infants whose mothers smoked during pregnancy. Case infants were diagnosed with isolated cleft lip with or without cleft palate (CL/P). EPHX1 codon 113 allelotyping was performed on 195 samples (85 cases, 110 controls) by PCR/RFLP analysis. 130 samples (79 cases, 51 controls) were tested for the GSTM1 homozygous null genotype using PCR. Using the odds ratio as a measure of association, we did not observe elevated risks of CL/P associated with either allelic comparison. This suggests that when mothers smoke periconceptionally, their infants having these alleles at either (or both) loci were not at substantially increased risk for CL/P compared to infants with the wild-type alleles.
J K Hartsfield; T A Hickman; E T Everett; G M Shaw; E J Lammer; R A Finnell
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics     Volume:  102     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2001 Jul 
Date Detail:
Created Date:  2001-07-25     Completed Date:  2001-08-23     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  21-4     Citation Subset:  IM    
Copyright Information:
Copyright 2001 Wiley-Liss, Inc.
Oral Facial Genetics Section, Indiana University School of Dentistry, Indianapolis, Indiana 46202-5186, USA.
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MeSH Terms
Cleft Lip / etiology,  genetics
Cleft Palate / etiology,  genetics
DNA / genetics
Epoxide Hydrolases / genetics*
Gene Frequency
Glutathione Transferase / genetics*
Infant, Newborn
Mouth Abnormalities / etiology*,  genetics
Polymorphism, Genetic
Prenatal Exposure Delayed Effects*
Risk Factors
Smoking / adverse effects*
Transforming Growth Factor alpha / genetics
Grant Support
Reg. No./Substance:
0/Transforming Growth Factor alpha; 9007-49-2/DNA; EC Transferase; EC S-transferase M1; EC 3.3.2.-/Epoxide Hydrolases

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