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Apolipoprotein E and apolipoprotein B genotypes and risk for spina bifida
Kelly A Volcik1, Huiping Zhu, Gary M Shaw
1Institute of Bioscience and Technology, Texas A&M University System Health Science Center, Houston, Texas 77030, USA.
Teratology
|October 25, 2002
Summary
Genetic variations in apolipoprotein E (apoE) and apolipoprotein B (apoB) genes were studied for their association with spina bifida (SB) risk. This research found no substantial link between these gene variations and infant SB risk.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Cholesterol metabolism and biosynthesis are crucial for normal central nervous system (CNS) development.
- Rapidly dividing embryonic cells require high cholesterol levels for cell membrane integrity.
- Apolipoprotein E (apoE) and apolipoprotein B (apoB) gene variations can influence cholesterol levels.
Purpose of the Study:
- To investigate the potential association between infant genetic variations in apoE and apoB genes and the risk of spina bifida (SB).
Main Methods:
- Genomic DNA was isolated from newborn blood spots of infants with SB and control infants.
- Apolipoprotein E (apoE) and apolipoprotein B (apoB) genotypes were determined using PCR amplification and restriction enzyme digestion.
Main Results:
- No statistically significant differences in genotype frequencies for apoE and apoB polymorphisms were found between SB cases and controls.
- A higher frequency of the wild-type allele for apoB polymorphisms was observed in SB infants compared to controls.
- The apoE genotype E2/E3 was less frequent in SB infants (4%) than in controls (15%).
Conclusions:
- Genetic variations in apoE and apoB genes, which regulate cholesterol metabolism, do not appear to be significant contributors to the risk of spina bifida in infants.