Apolipoprotein E and apolipoprotein B genotypes and risk for spina bifida.
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.
Volcik
Kelly A
KA
Institute of Bioscience and Technology, Texas A&M University System Health Science Center, Houston, Texas 77030, USA.
Zhu
Huiping
H
Shaw
Gary M
GM
Lammer
Edward J
EJ
Finnell
Richard H
RH
D001055:Apolipoproteins B / Q000097:blood / Q000235:genetics*; D001057:Apolipoproteins E / Q000097:blood / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D011110:Polymorphism, Genetic; D012042:Registries; D012306:Risk; D016137:Spina Bifida Cystica / Q000235:genetics
D001055:Apolipoproteins B; D001057:Apolipoproteins E