|
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 |
Compound heterozygotes for a novel mutation, apo E1 Nagoya (Arg142Ser) and Apo E2 (Arg158Cys), with severe type III hyperlipoproteinemia and familial hypercholesterolemia.
|
24953047 |
2014 |
|
rs11542041
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Lipoprotein glomerulopathy-like disease in a patient with type III hyperlipoproteinemia due to apolipoprotein E2 (Arg158 Cys)/3 heterozygosity.
|
17593519 |
2007 |
|
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 |
However, apoE2(Arg158-->Cys) displayed more activity than the variants associated with the dominant forms of type III hyperlipoproteinemia.
|
8175773 |
1994 |
|
rs11542041
|
|
|
0.100 |
GeneticVariation |
BEFREE |
ApoE2 which differs from apoE3 by the single amino acid substitution Arg158Cys located near the LDLR recognition site exhibits impaired binding to the receptor and an inability to promote clearance of TG-rich lipoprotein remnant particles; this isoform is associated with Type-III hyperlipoproteinemia.
|
25328986 |
2014 |
|
rs11542041
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Type III hyperlipoproteinaemia (HLP) is usually associated with homozygosity for apolipoprotein (apo) E2 (arg-158-->Cys).
|
8682150 |
1996 |
|
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 |
|
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 |
|
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 |
|
rs573658040
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We described the mutation apo E2* (Arg136 --> Cys) in a family with elevated lipid levels, but there was no confirmation of the connection between this mutation and type III hyperlipoproteinemia or hyperlipoproteinemia at all.
|
11043917 |
2000 |
|
rs573658040
|
|
|
0.100 |
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 |
|
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 |
|
rs573658040
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The apolipoprotein E2 (Arg145Cys) mutation causes autosomal dominant type III hyperlipoproteinemia with incomplete penetrance.
|
9157949 |
1997 |
|
rs573658040
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In an initiated study of Qataris, we observed that 17% of the African-derived genetic subgroup were heterozygotes for a rare Arg145Cys (R145C) variant that functions as a dominant trait with incomplete penetrance associated with type III hyperlipoproteinemia.
|
24239320 |
2014 |
|
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 |
|
rs573658040
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Apolipoprotein E2 (Arg-136-->Cys), a variant of apolipoprotein E associated with late-onset dominance of type III hyperlipoproteinaemia.
|
8682150 |
1996 |
|
rs573658040
|
|
|
0.100 |
GeneticVariation |
BEFREE |
As the dominant apoE variants known so far are characterized by more pronounced reductions of heparin binding, we suggest that apoE2 (Arg136 --> Cys) is not associated with dominant expression of type III hyperlipoproteinemia.
|
9548597 |
1998 |
|
rs573658040
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Restriction isotyping of apolipoprotein E R145C in type III hyperlipoproteinemia.
|
7735921 |
1995 |
|
rs573658040
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This finding supports the notion that although apoE 2*(Arg136-->Cys) mutation is perhaps not sufficient to cause FD itself, the presence of other genetic and/or environmental factors can lead to the phenotypic expression of the disease in the carriers.
|
14535841 |
2003 |
|
rs11542037
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Apolipoprotein E1-Hammersmith (Lys146-->Asn;Arg147-->Trp), due to a dinucleotide substitution, is associated with early manifestation of dominant type III hyperlipoproteinaemia.
|
8830931 |
1996 |
|
rs1466963971
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification of a new apolipoprotein E variant (E2 Arg142-->Leu) in type III hyperlipidemia.
|
7772063 |
1995 |
|
rs199768005
|
|
|
0.010 |
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 |
|
rs267606661
|
|
|
0.010 |
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 |
|
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 |