|
rs121918393
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Apolipoprotein E2-Christchurch (136 Arg----Ser). New variant of human apolipoprotein E in a patient with type III hyperlipoproteinemia.
|
3038959 |
1987 |
|
rs11542041
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These results suggest that, in contrast to the by far most frequently occurring E2(Arg158----Cys) allele, heterozygosity for this uncommon E2 allele may cause familial dysbetalipoproteinemia.
|
3690877 |
1987 |
|
rs11542041
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In all studied populations the receptor-binding defective apo E2 (arg158----cys) is associated with low cholesterol and apo B in heterozygotes and results in primary dysbetalipoproteinemia or type III hyperlipoproteinemia in homozygotes.
|
3544759 |
1987 |
|
rs429358
|
|
|
0.730 |
GeneticVariation |
BEFREE |
This explains the significant effect of the apoE gene locus on the variability of plasma lipoprotein concentrations and moreover the implication of apoE alleles in the aetiology of multifactorial forms of hyperlipidaemia e.g. familial type III hyperlipidaemia (apoE2; arg158----cys) and polygenic hypercholesterolaemia (apoE4; cys112----arg).
|
3141688 |
1988 |
|
rs11542041
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This explains the significant effect of the apoE gene locus on the variability of plasma lipoprotein concentrations and moreover the implication of apoE alleles in the aetiology of multifactorial forms of hyperlipidaemia e.g. familial type III hyperlipidaemia (apoE2; arg158----cys) and polygenic hypercholesterolaemia (apoE4; cys112----arg).
|
3141688 |
1988 |
|
rs11542041
|
|
|
0.100 |
GeneticVariation |
BEFREE |
All 34 subjects, most of whom displayed clinical or biochemical features of type III hyperlipoproteinemia, were found to be homozygous for apo E2(Arg158----Cys), strongly suggesting that this variant is the most common form of apo E2 within this ethnic and clinical population.
|
2912421 |
1989 |
|
rs121918394
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Family studies of the three probands heterozygous for the E*2(lys146----gln) allele showed that this rare allele predisposes to FD with high penetrance.
|
2313204 |
1990 |
|
rs11542041
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We conclude that FD is a genetically heterogeneous disease entity, displaying a recessive mode of inheritance with strongly reduced penetrance in case of the common E2(arg158----cys) variant and with a dominant mode of inheritance with high penetrance in case of the rare E2(lys146----gln) mutant.
|
2313204 |
1990 |
|
rs769455
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.
|
1674745 |
1991 |
|
rs201672011
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.
|
1674745 |
1991 |
|
rs573658040
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.
|
1674745 |
1991 |
|
rs121918394
|
|
|
0.860 |
GeneticVariation |
BEFREE |
ApoE mutations that occur in the binding domain, e.g., apoE2 (Lys146----Gln) have a direct effect on the ligand-receptor binding and, in these individuals, FD is inherited in an autosomal dominant way.
|
1588125 |
1992 |
|
rs769455
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Heterozygosity for apolipoprotein E-4Philadelphia(Glu13----Lys, Arg145----Cys) is associated with incomplete dominance of type III hyperlipoproteinemia.
|
1352296 |
1992 |
|
rs387906567
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Dominant expression of type III hyperlipoproteinemia associated with apoE phenotype E3/3 is caused by heterozygosity for a human apoE variant, apoE3(Cys112----Arg, Arg142----Cys).
|
1730728 |
1992 |
|
rs429358
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Dominant expression of type III hyperlipoproteinemia associated with apoE phenotype E3/3 is caused by heterozygosity for a human apoE variant, apoE3(Cys112----Arg, Arg142----Cys).
|
1730728 |
1992 |
|
rs201672011
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Heterozygosity for apolipoprotein E-4Philadelphia(Glu13----Lys, Arg145----Cys) is associated with incomplete dominance of type III hyperlipoproteinemia.
|
1352296 |
1992 |
|
rs11542041
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The mutation at residue 142 decreased the binding activity of apoE to both heparin and the monoclonal antibody 1D7 (this antibody inhibits receptor binding of apoE), whereas apoE2(Arg158----Cys), which is associated with recessive expression of type III hyperlipoproteinemia, binds normally to both.
|
1730728 |
1992 |
|
rs11542041
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We propose that the single base deletion in the apo E gene which is the cause of a non-functional 'null' allele in addition to a probably dominant apo E1 (Gly127-->Asp, Arg158-->Cys) variant of late or incomplete penetrance are the primary genetic defects in this kindred leading to severe dysbetalipoproteinemia.
|
1360898 |
1992 |
|
rs573658040
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Heterozygosity for apolipoprotein E-4Philadelphia(Glu13----Lys, Arg145----Cys) is associated with incomplete dominance of type III hyperlipoproteinemia.
|
1352296 |
1992 |
|
rs267606664
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We propose that the single base deletion in the apo E gene which is the cause of a non-functional 'null' allele in addition to a probably dominant apo E1 (Gly127-->Asp, Arg158-->Cys) variant of late or incomplete penetrance are the primary genetic defects in this kindred leading to severe dysbetalipoproteinemia.
|
1360898 |
1992 |
|
rs121918394
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Family analyses of the APOE*2(Lys146-->Gln) FD subjects showed that the apo E to apo B ratio in the d < 1.019 g/ml lipoprotein fraction of allele carriers is 3.5 times as high as that found in non-carriers (2.8 vs. 0.8, by wt.).
|
7980718 |
1994 |
|
rs121918394
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Variable expression of familial dysbetalipoproteinemia in apolipoprotein E*2 (Lys146-->Gln) Allele carriers.
|
8083367 |
1994 |
|
rs769455
|
|
|
0.760 |
GeneticVariation |
BEFREE |
In comparison, beta-VLDL+apoE(Arg142-->Cys), beta-VLDL+apoE(Arg145-->Cys), and beta-VLDL+apoE-Leiden, which are associated with dominant type III hyperlipoproteinemia, bound more poorly.
|
8175773 |
1994 |
|
rs387906567
|
|
|
0.730 |
GeneticVariation |
BEFREE |
In comparison, beta-VLDL+apoE(Arg142-->Cys), beta-VLDL+apoE(Arg145-->Cys), and beta-VLDL+apoE-Leiden, which are associated with dominant type III hyperlipoproteinemia, bound more poorly.
|
8175773 |
1994 |
|
rs429358
|
|
|
0.730 |
GeneticVariation |
BEFREE |
None of the family members carrying APOE*3-(Cys-112-->Arg; Arg-251-->Gly) and/or APOE*2(Val-236-->Glu) exhibited lipoprotein abnormalities characteristic of familial dysbetalipoproteinaemia, although three family members carrying APOE*3-(Cys-112-->Arg; Arg-251-->Gly) showed hypertriglyceridaemia.
|
8156744 |
1994 |