APOE, apolipoprotein E, 348

N. diseases: 1049; N. variants: 62
Disease: Arteriosclerosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11542041
rs11542041
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0003850
Disease:
Arteriosclerosis 		0.030 GeneticVariation BEFREE Effect of macrophage-derived mouse ApoE, human ApoE3-Leiden, and human ApoE2 (Arg158-->Cys) on cholesterol levels and atherosclerosis in ApoE-deficient mice. 10634808 2000
dbSNP: rs11542041
rs11542041
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0003850
Disease:
Arteriosclerosis 		0.030 GeneticVariation BEFREE Thus, comparisons between the 2/2 and 3/3 mice unequivocally demonstrate that a single amino acid difference (Arg158 Cys) in the apoE protein is sufficient to cause type III HLP and spontaneous atherosclerosis in mice. 9649566 1998
dbSNP: rs11542041
rs11542041
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0003850
Disease:
Arteriosclerosis 		0.030 GeneticVariation BEFREE We have investigated the interaction of apolipoprotein E2(Arg158-Cys) (apoE2) and apolipoprotein E3-Leiden (apoE3-Leiden) with the very low density lipoprotein (VLDL) receptor in vivo and in vitro to define the possible role of this receptor in lipoprotein metabolism and atherosclerosis. 9445249 1998