Document Detail

Apolipoprotein E and apolipoprotein B genotypes and risk for spina bifida.
MedLine Citation:
PMID:  12397634     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Altered cholesterol metabolism and defects in cholesterol biosynthesis may influence abnormal central nervous system (CNS) development. During early stages of embryonic development, high levels of cholesterol are needed by rapidly proliferating cells that utilize cholesterol as a key cell membrane component. Alterations in cholesterol levels are influenced by variations in the apolipoprotein E (apoE) and apolipoprotein B (apoB) genes. The purpose of our study was to explore the possible association between infant genetic variations in the apoE and apoB genes and spina bifida (SB) risk. METHODS: Genomic DNA was extracted from newborn screening blood spots obtained from 26 infants with SB and 73 non-malformed control infants. ApoE and apoB genotypes were determined by restriction enzyme digestion of PCR amplification products. RESULTS: Genotype frequencies for the apoE and apoB polymorphisms were not statistically different between case and control infants. For each apoB polymorphism, however, the frequency of the wild-type allele was higher in SB infants as compared to controls. Additionally, the apoE genotype E2/E3 was observed more frequently in the controls than in SB infants [15% in controls compared to 4% in cases; OR = 0.2 (0-1.6)]. CONCLUSIONS: Results from this study suggest that genetic variations in the apoE and apoB genes, known to regulate cholesterol metabolism, do not substantially contribute to the risk of SB in infants.
Kelly A Volcik; Huiping Zhu; Gary M Shaw; Edward J Lammer; Richard H Finnell
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Teratology     Volume:  66     ISSN:  0040-3709     ISO Abbreviation:  Teratology     Publication Date:  2002 Nov 
Date Detail:
Created Date:  2002-10-24     Completed Date:  2003-05-30     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0153257     Medline TA:  Teratology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  257-9     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Wiley-Liss, Inc.
Institute of Bioscience and Technology, Texas A&M University System Health Science Center, Houston, Texas 77030, USA.
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MeSH Terms
Apolipoproteins B / blood,  genetics*
Apolipoproteins E / blood,  genetics*
Gene Frequency
Infant, Newborn
Polymorphism, Genetic
Spina Bifida Cystica* / genetics
Grant Support
U50/CCU913241/CC/CDC HHS
Reg. No./Substance:
0/Apolipoproteins B; 0/Apolipoproteins E

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

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