While the common APOE polymorphism explains the majority of the locus genetic determinants of plasma lipid levels, additional SNPs in the APOC1/C2 region may contribute to CHD risk, but these effects require confirmation.
However, context-dependent influences of apolipoprotein E polymorphism on the risk for coronary heart disease have been reported; that is, depending on ethnic origin, gender and lifestyle, apolipoprotein E4 confers a major risk factor for coronary heart disease.
The objective of the study was to explore whether APOE-containing HDL can attenuate the defective impact of cholesterol-overloaded HDL on the development of coronary heart disease (CHD) in humans.
Of the 12 genes previously associated with CHD risk, in stepwise multivariate risk analysis, uncoupling protein 2 (UCP2; P = 0.0001), apolipoprotein E (APOE; P = 0.0003), lipoprotein lipase (LPL; P = 0.007), and apolipoprotein AIV (APOA4; P = 0.04) remained in the model.
The XbaI, EcoRI and the signal peptide insertion/deletion (I/D) polymorphic sites of APOB gene, the CfoI polymorphic site of apolipoprotein E gene (APOE), and the insertion/deletion polymorphism of angiotensin I-converting enzyme (ACE) gene were studied using polymerase chain reaction (PCR) in 55 postmenopausal women with coronary artery disease (CAD) and in 119 control women of equivalent age.
Our data suggest that genetic variation at the APOE is not a genetic factor related to the genetic susceptibility to coronary artery disease in Mexican individuals, but the role of this polymorphism in determining the lipid profile cannot be excluded.
Genetic polymorphisms for apolipoprotein E (apo E) and methylenetetrahydrofolate reductase (MTHFR) are believed to modulate risk of coronary heart disease (CHD) acting through regulation of lipid and homocysteine metabolism, respectively.
The epsilon4 allele of the gene encoding apolipoprotein E (apoE) is associated with elevated serum levels of total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C), as well as an increased risk of coronary heart disease (CHD), greater disease severity, and higher CHD mortality.
The APOE varepsilon4 allele is associated with a variety of conditions such as Alzheimer's disease, coronary artery disease, stroke and postoperative cognitive dysfunction.
APOE ε2 represents the first significant association for multiple subclinical atherosclerosis traits across multiple ethnicities, as well as clinical coronary heart disease.
Butyrylcholinesterase K variant and the APOE-epsilon 4 allele work in synergy to increase the risk of coronary artery disease especially in diabetic patients.