|
rs11542041
|
|
Hyperlipoproteinemia Type III
|
|
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 |
|
rs11542041
|
|
Hyperlipoproteinemia Type III
|
|
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
|
|
Hyperlipoproteinemia Type III
|
|
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 |
|
rs11542041
|
|
Hyperlipoproteinemia Type III
|
|
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 |
|
rs11542041
|
|
Hyperlipoproteinemia Type III
|
|
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
|
|
Polygenic hypercholesterolemia
|
|
0.010 |
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
|
|
Hyperlipidemia
|
|
0.010 |
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
|
|
Hyperlipoproteinemia Type III
|
|
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 |
|
rs11542041
|
|
Hyperlipoproteinemia Type III
|
|
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
|
|
Hypertriglyceridemia
|
|
0.040 |
GeneticVariation
|
BEFREE |
It is not yet clear, however, if the hypertriglyceridemia observed in the proband is associated with the presence of the E1(Gly127----Asp, Arg158----Cys) variant.
|
6323533 |
1984 |
|
rs11542041
|
|
Hyperkeratosis lenticularis perstans
|
|
0.030 |
GeneticVariation
|
BEFREE |
Although most subjects with type III HLP are homozygous for apolipoprotein (apo) E2 (arg158-->cys, R158C), a variant that binds defectively to cell surface receptors, some individuals with type III HLP have rare mutations of apo E. We identified six subjects from three families with type III HLP who had either an apo E3/1 or E4/1 phenotype by isoelectric focusing.
|
7883834 |
1995 |
|
rs11542041
|
|
Hyperlipoproteinemia Type III
|
|
0.100 |
GeneticVariation
|
BEFREE |
However, apoE2(Arg158-->Cys) displayed more activity than the variants associated with the dominant forms of type III hyperlipoproteinemia.
|
8175773 |
1994 |
|
rs11542041
|
|
Hypertriglyceridemia
|
|
0.040 |
GeneticVariation
|
BEFREE |
Family studies failed to demonstrate cosegregation between the new mutations and severe hyperlipoproteinemia, although a number of carriers for the APOE*3(Cys112-->Arg; Arg251-->Gly) allele and the APOE*1(Arg158-->Cys; Leu252-->Glu) allele expressed hypertriglyceridemia and/or hypercholesterolemia.
|
8488843 |
1993 |
|
rs11542041
|
|
Hypercholesterolemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Family studies failed to demonstrate cosegregation between the new mutations and severe hyperlipoproteinemia, although a number of carriers for the APOE*3(Cys112-->Arg; Arg251-->Gly) allele and the APOE*1(Arg158-->Cys; Leu252-->Glu) allele expressed hypertriglyceridemia and/or hypercholesterolemia.
|
8488843 |
1993 |
|
rs11542041
|
|
Hyperlipoproteinemia Type III
|
|
0.100 |
GeneticVariation
|
BEFREE |
Type III hyperlipoproteinaemia (HLP) is usually associated with homozygosity for apolipoprotein (apo) E2 (arg-158-->Cys).
|
8682150 |
1996 |
|
rs11542041
|
|
Hyperkeratosis lenticularis perstans
|
|
0.030 |
GeneticVariation
|
BEFREE |
Type III hyperlipoproteinaemia (HLP) is usually associated with homozygosity for apolipoprotein (apo) E2 (arg-158-->Cys).
|
8682150 |
1996 |
|
rs11542041
|
|
Hypertriglyceridemia
|
|
0.040 |
GeneticVariation
|
BEFREE |
The second, carrying both the rare isoforms apoE1(Gly127-->Asp, Arg158-->Cys) and apoE3(Cys112-->Arg, Arg251-->Gly), presented a hypertriglyceridaemia at the age of 10.3.
|
9279208 |
1997 |
|
rs11542041
|
|
Hyperlipoproteinemias
|
|
0.010 |
GeneticVariation
|
BEFREE |
Compound heterozygote for both rare apolipoprotein E1 (Gly127-->Asp, Arg158-->Cys) and E3(Cys112-->Arg, Arg251-->Gly) alleles in a multigeneration pedigree with hyperlipoproteinaemia.
|
9279208 |
1997 |
|
rs11542041
|
|
Atherosclerosis
|
|
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 |
|
rs11542041
|
|
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 |
|
rs11542041
|
|
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 |
|
rs11542041
|
|
Atherosclerosis
|
|
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 |
|
rs11542041
|
|
Atherosclerosis
|
|
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 |
|
rs11542041
|
|
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 |
|
rs11542041
|
|
Hyperkeratosis lenticularis perstans
|
|
0.030 |
GeneticVariation
|
BEFREE |
Recessive type III HLP is caused by apoE2 (Arg(158) Cys), a mutant with diminished low-density lipoprotein (LDL) receptor binding but halfnormal heparin binding.
|
11181800 |
2001 |