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Distribution of apolipoprotein E alleles in a Scottish healthy newborn population
J-C Becher1, J E Bell, N McIntosh
1Division of Pathology, University of Edinburgh, UK.
Insights
The apolipoprotein E (ApoE) epsilon4 allele is more common in Scottish newborns than adults, suggesting a potential increased risk of early mortality. This study analyzed ApoE genotypes in infant cord blood compared to adult data.
Area of Science:
- Genetics
- Human Biology
- Epidemiology
Background:
- The human apolipoprotein E (ApoE) gene exists in three common alleles: epsilon2, epsilon3, and epsilon4.
- These alleles influence lipid metabolism, immune function, and brain health, but their role in early life is understudied.
- ApoE epsilon4 is linked to increased risk for Alzheimer's disease and cardiovascular issues.
Purpose of the Study:
- To investigate the frequency of ApoE alleles and genotypes in a cohort of Scottish newborns.
- To compare these frequencies with existing data from Scottish adults.
Main Methods:
- Apolipoprotein E (ApoE) alleles and genotypes were determined in the cord blood of 371 healthy, full-term Scottish infants.
- Polymerase Chain Reaction (PCR) methodology was employed for genetic analysis.
- Results were statistically compared to previously published data for Scottish adults.
Main Results:
- A marginally significant over-representation of the ApoE epsilon4 allele and an under-representation of the epsilon3 allele were observed in infants compared to adults.
- Specific genotypes showed similar trends: ApoE 4/4 and 2/4 were over-represented, while 2/3 and 3/3 were under-represented in infants versus adults.
- These observed differences, while potentially due to chance, suggest a distinct allele distribution between age groups.
Conclusions:
- The ApoE epsilon4 allele may be more prevalent in healthy newborns than in middle-aged adults in the Scottish population.
- The findings suggest that the ApoE epsilon4 allele might be associated with an increased risk of premature death.
- Further research is warranted to confirm these findings and elucidate the implications of early-life ApoE allele distribution.
Abstract:
The different alleles of the human apolipoprotein E polymorphism, ApoE epsilon2, epsilon3, epsilon4, have important implications for systemic lipid metabolism, immunological function and for the brain in maintenance and in response to injury. Few studies have focussed on their role in early life. The ApoE alleles and genotypes were ascertained in the cord blood of 371 full-term and normal Scottish newborn infants using PCR methodology. The results were compared to previously published data for Scottish adults in late middle age. There was a marginally significant over-representation of epsilon4 and under-representation of epsilon3 alleles in healthy infants as compared with adults. Inspection of the individual genotypes confirms the over-representation of ApoE 4/4 and 2/4 with a reduction in ApoE 2/3 and 3/3 when compared with Scottish adults. Although these results may have occurred by chance, the ApoE epsilon4 allele may confer an increased risk of premature death.
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