APOE
LOCUS ID348
GENE_SYMBOLAPOE
GENE NAMEapolipoprotein E
SYNONYMNSAD2, LPG, LDLCQ5
CHROMOSOME19
HOMOLOGENE ID30951
microRNAsNANA
GENE SUMMARY
Chylomicron remnts and very low density lipoprotein (VLDL) remnts are rapidly removed from the circulation by receptor-mediated endocytosis in the liver. Apolipoprotein E, a main apoprotein of the chylomicron, binds to a specific receptor on liver cells and peripheral cells. ApoE is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. The APOE gene is mapped to chromosome 19 in a cluster with APOC1 and APOC2. Defects in apolipoprotein E result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnts. [provided by RefSeq, Jul 2008]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. In type 2 diabetes, epsilon2 carriers (P = 0.04; odds ratio = 5.42; 95% CI1.10-26.8) and epsilon3/epsilon4 (P = 0.04; odds ratio = 22. 5; 95% CI1.11-454.90) genotype carriers were more likely to have glomerular hypertrophy than were epsilon3/epsilon3 carriers.Our findings confirm the risk association of the ApoE polymorphism with diabetic nephropathy.19218599
Cardiovascular1. Polymorphisms in GYS1 and APOE predict CV mortality in T2D families in a gender-specific fashion and independently of each other17356695
Retinopathy1. epsilon4 allele of the ApoE gene is a potential risk factor for the severity of retinal hard exudates and visual loss in type 2 diabetic Mexican patients with diabetic retinopathy.11910554
Neuropathy1. As the stage of diabetic neuropathy advanced, the incidence of apoE4 increasedApoE phenotype influences the progress of diabetic peripheral neuropathy and that apoE4 contributes to the deterioration of diabetic peripheral neuropathy.9760837