Hypercholesterolemia, Familial
|
0.400 |
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 |
Hypercholesterolemia, Familial
|
0.400 |
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 |
Hypercholesterolemia, Familial
|
0.400 |
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 |
Hypercholesterolemia, Familial
|
0.400 |
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 |
Hypercholesterolemia, Familial
|
0.400 |
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 |
Hypercholesterolemia, Familial
|
0.400 |
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 |
Hypercholesterolemia, Familial
|
0.400 |
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 |
Hypercholesterolemia, Familial
|
0.400 |
Biomarker
|
disease |
CTD_human |
Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.
|
16030523 |
2005 |
Hypercholesterolemia, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this study we examined the influence of Apo-E genotype on lipid parameters and the incidence of CAD in 93 Greek patients with familial hypercholesterolaemia.
|
16362800 |
2005 |
Hypercholesterolemia, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
Moreover, the strong association suggests that apoE4 carries an additional disadvantage for FH children.
|
12646733 |
2003 |
Hypercholesterolemia, Familial
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
We did not find any effect of Apo E genotypes on lipid levels in the NL or FH group.
|
14615272 |
2003 |
Hypercholesterolemia, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Apolipoprotein E genotype is not associated with cardiovascular disease in heterozygous subjects with familial hypercholesterolemia.
|
12796755 |
2003 |
Hypercholesterolemia, Familial
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Effect of apolipoprotein E genotype on lipid levels and response to diet in familial hypercholesterolemia.
|
10812582 |
2000 |
Hypercholesterolemia, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
APO E genotype and familial hypercholesterolaemia.
|
9293308 |
1997 |
Hypercholesterolemia, Familial
|
0.400 |
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 |
Hypercholesterolemia, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Effect of apolipoprotein E polymorphism and XbaI polymorphism of apolipoprotein B on response to lovastatin treatment in familial and non-familial hypercholesterolaemia.
|
1940775 |
1991 |