Document Detail

Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts?
MedLine Citation:
PMID:  15887275     Owner:  NLM     Status:  MEDLINE    
Abnormalities in folate and/or homocysteine metabolism may adversely influence embryonic development, leading to the birth of infants with a variety of congenital malformations, including neural tube defects (NTDs) and craniofacial abnormalities. Based upon suggestive evidence that periconceptional folic acid supplementation is effective in preventing a significant proportion of the aforementioned birth defects, genetic variation in the folate biosynthetic pathways may influence the infant's susceptibility to these birth defects. The goal of our study was to investigate sequence variations in the betaine-homocysteine methyltransferase (BHMT) and betaine-homocysteine methyltransferase (BHMT2) genes as modifiers of risk of spina bifida, cleft palate, and cleft lip and palate. The results of this study indicated that individuals homozygous for the single nucleotide polymorphism R239Q in BHMT did not have elevated risks for spina bifida. Genotype frequencies for the BHMT2 rs626105 polymorphism also did not reveal any elevated risks for spina bifida, and only a modest, imprecise elevation of risk for orofacial clefts. The results of these experiments suggest that variants of the BHMT/BHMT2 genes in infants do not substantially contribute to the risk of spina bifida or orofacial clefts in our study population.
Huiping Zhu; Stacey Curry; Shu Wen; Ned J Wicker; Gary M Shaw; Edward J Lammer; Wei Yang; Toghrul Jafarov; Richard H Finnell
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  135     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2005 Jun 
Date Detail:
Created Date:  2005-05-26     Completed Date:  2005-07-05     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  274-7     Citation Subset:  IM    
Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, Texas 77030, USA.
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MeSH Terms
Betaine-Homocysteine S-Methyltransferase
Cleft Lip / diagnosis,  genetics
Cleft Palate / diagnosis,  genetics
DNA / chemistry,  genetics
DNA Mutational Analysis
Gene Frequency
Genetic Testing
Infant, Newborn
Isoenzymes / genetics
Linkage Disequilibrium
Methyltransferases / genetics*
Mouth Abnormalities / diagnosis,  genetics*
Neonatal Screening
Odds Ratio
Polymorphism, Single Nucleotide
Risk Factors
Spinal Dysraphism / diagnosis,  genetics*
Grant Support
Reg. No./Substance:
0/BHMT2 protein, human; 0/Isoenzymes; 9007-49-2/DNA; EC 2.1.1.-/Methyltransferases; EC protein, human; EC S-Methyltransferase

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