Hyperlipoproteinemia Type IIa
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Two new putative loci causing FH have been identified recently, the p.(Leu167del) mutation in APOE and new mutations in the signal transducing adaptor family member STAP1.
|
31809983 |
2020 |
Hyperlipoproteinemia Type IIa
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The aim of this work was to compared the effect of lipid lowering drugs among familial hypercholesterolemia (FH) subjects with a functional mutation in LDLR (LDLR FH) and FH with the p.(Leu167del) mutation in APOE.
|
30731287 |
2019 |
Hyperlipoproteinemia Type IIa
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Moreover, the ApoE risk allele E4 was proved significantly associated with FH cases when compared with controls (OR-2.24 (95%CI: 1.06-4.70); p=0.02).
|
30235358 |
2018 |
Hyperlipoproteinemia Type IIa
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is caused by mutations in LDLR (low-density lipoprotein receptor), APOB (apolipoprotein B), PCSK9 (proprotein convertase subtilisin/kexin type 9), or APOE (apolipoprotein E) genes in approximately 80% of the cases.
|
29374275 |
2018 |
Hyperlipoproteinemia Type IIa
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.
|
26802169 |
2016 |
Hyperlipoproteinemia Type IIa
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our objective was to determine the frequency of p.Leu167del mutation in APOE gene in subjects with autosomal dominant hypercholesterolemia (ADH) in whom LDLR, APOB, and PCSK9 mutations had been excluded and to identify the mechanisms by which this mutant apo E causes hypercholesterolemia.
|
27014949 |
2016 |
Hyperlipoproteinemia Type IIa
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.
|
26802169 |
2016 |
Hyperlipoproteinemia Type IIa
|
0.600 |
Biomarker
|
disease |
BEFREE |
Metaanalysis of the weighted 6-SNP score, on the basis of polymorphisms in CELSR2 (cadherin, EGF LAG 7-pass G-type receptor 2), APOB (apolipoprotein B), ABCG5/8 [ATP-binding cassette, sub-family G (WHITE), member 5/8], LDLR (low density lipoprotein receptor), and APOE (apolipoprotein E) loci, in the independent FH/M- cohorts showed a consistently higher score in comparison to the WHII population (P < 2.2 × 10(-16)).
|
25414277 |
2015 |
Hyperlipoproteinemia Type IIa
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
APOE p.Leu167del mutation in familial hypercholesterolemia.
|
24267230 |
2013 |
Hyperlipoproteinemia Type IIa
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.
|
22949395 |
2013 |
Hyperlipoproteinemia Type IIa
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A total of 386 patients with hyperlipidemia, including 166 with familial hypercholesterolemia (FH), with good adherence to rosuvastatin 10 mg daily, were genotyped for the APOE e2/e3/e4 and APOA5 -1131T>C polymorphisms.
|
23312054 |
2013 |
Hyperlipoproteinemia Type IIa
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.
|
22949395 |
2013 |
Hyperlipoproteinemia Type IIa
|
0.600 |
Biomarker
|
disease |
BEFREE |
Since the discovery of the low-density lipoprotein receptor (LDLR) and its association with familial hypercholesterolemia in the early 1980s, a family of structurally related proteins has been discovered that has apolipoprotein E as a common ligand, and the broad functions of its members have been described.
|
21720686 |
2011 |
Hyperlipoproteinemia Type IIa
|
0.600 |
Biomarker
|
disease |
CTD_human |
Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.
|
16030523 |
2005 |
Hyperlipoproteinemia Type IIa
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Apolipoprotein E genotype is not associated with cardiovascular disease in heterozygous subjects with familial hypercholesterolemia.
|
12796755 |
2003 |
Hyperlipoproteinemia Type IIa
|
0.600 |
Biomarker
|
disease |
BEFREE |
Moreover, the strong association suggests that apoE4 carries an additional disadvantage for FH children.
|
12646733 |
2003 |
Hyperlipoproteinemia Type IIa
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
We did not find any effect of Apo E genotypes on lipid levels in the NL or FH group.
|
14615272 |
2003 |
Hyperlipoproteinemia Type IIa
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Effect of apolipoprotein E genotype on lipid levels and response to diet in familial hypercholesterolemia.
|
10812582 |
2000 |
Hyperlipoproteinemia Type IIa
|
0.600 |
Biomarker
|
disease |
BEFREE |
In conclusion, the analysis presented here supports the concept that the apo E gene has an important role in the regulation of plasma lipid and lipoproteins in FH.
|
8722744 |
1996 |
Hyperlipoproteinemia Type IIa
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Both WHHL rabbits and FH patients have a four- to sevenfold increase in plasma levels of apolipoprotein E (apo E).
|
3196225 |
1989 |