Abstract
Background: Apolipoprotein E (Apo E) has an important role in cholesterol and lipoprotein metabolism within the nervous system. The importance of different apolipoprotein E alleles in adult brain injury and neurological diseases has been well-described. Few investigators have examined the effect of the Apo E genotype at different ages.
Aims: To determine the frequency of the Apo E alleles within a population of births and to compare the allele frequency with published adult data.
Methods: < Healthy infants- blood was taken from the placenta of 371 anonymised healthy newborn infants at birth. Perinatal deaths- DNA was extracted from formalin-fixed paraffin embedded brain blocks of 242 perinatal deaths (PNDs) enrolled in the Scottish Perinatal Neuropathology Study. There were 179 stillbirths (SBs) and 63 early neonatal deaths (ENNDs). Apolipoprotein E alleles (å2, å3, å4) were determined using PCR methodology. The frequency of alleles in each group was compared using the chi-squared test.
Results: Chi square- normal adults vs liveborns p=0.082, trend å2=0.93, å3= 0.049, å4 =0.024 Chi square- normal adults vs PNDs p=0.037 (SBs p=0.046, ENNDs p=0.101) Chi square- liveborns vs perinatal deaths p=0.01 (SBs p=0.008, ENNDs p=0.426)
Conclusions: We have demonstrated an excess of the å2 allele among infants dying before or shortly after birth compared to healthy newborns and adults, suggesting an increased mortality of Apo E å2 carriers in the perinatal period. Liveborn infants have a higher frequency of the å4 allele than the adult population and this decline between birth and middle age may reflect an increased mortality in Apo E å4 carriers. 1Cunning AM, Robertson FW. Polymorphism at the apolipoprotein-E locus in relation to risk of coronary disease. Clinical Genetics 1984;25:310–3
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Becher, J., Keeling, J., McIntosh, N. et al. 24 Apolipoprotein E Genotype in The Perinatal Population. Pediatr Res 56, 468 (2004). https://doi.org/10.1203/00006450-200409000-00047
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DOI: https://doi.org/10.1203/00006450-200409000-00047