Apolipoprotein E polymorphism in cerebrovascular & coronary heart diseases
Shajith Anoop1, Anoop Misra, Kiran Meena
1Department of Environmental Sciences, Bharathiar University, Coimbatore, India.
The Indian Journal of Medical Research
|October 23, 2010
Summary
Apolipoprotein E (apo E) gene polymorphisms influence cholesterol levels and are linked to diseases like Alzheimer's and heart conditions. This review examines apo E's role in cardiovascular and cerebrovascular disorders across populations.
Area of Science:
- Genetics and Molecular Biology
- Cardiovascular Science
- Neuroscience
Background:
- Apolipoprotein E (apo E) plays a critical role in lipid metabolism and cholesterol transport.
- Polymorphisms in the APO E gene account for approximately 14% of the variation in plasma cholesterol levels.
- The APO E gene has three common alleles (ε2, ε3, ε4) leading to six common phenotypes.
Purpose of the Study:
- To review the role of APO E polymorphisms in cerebrovascular and coronary heart diseases.
- To discuss the prevalence and disease associations of APO E polymorphisms in Asian Indians and other populations.
- To review studies on apo E deficiency pathophysiology using knock-out mouse models.
Main Methods:
- Literature review of studies on APO E gene polymorphisms.
- Analysis of disease associations, including Alzheimer's, coronary heart disease, and cerebrovascular disorders.
- Review of research utilizing apo E knock-out mouse models.
Main Results:
- The APO E ε4 allele is consistently associated with an increased risk of Alzheimer's disease, coronary heart disease, and cerebrovascular disorders.
- Allele and genotype frequencies of APO E vary significantly across different global populations.
- Studies in knock-out mice have provided insights into the pathophysiology of apo E deficiency.
Conclusions:
- APO E polymorphisms are significant determinants of lipid levels and cardiovascular/cerebrovascular disease risk.
- Understanding population-specific frequencies and disease associations of APO E is crucial for risk assessment.
- Apo E deficiency models are valuable tools for investigating disease mechanisms.
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