rs11542041
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|
Age related macular degeneration
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|
0.010 |
GeneticVariation
|
BEFREE |
In this study, we investigated the association between ApoE C112R/R158C single nucleotide polymorphisms (which determine the E2, E3, and E4 isoforms) and age-related macular degeneration (AMD), and the mechanism underlying the association.
|
16823865 |
2006 |
rs11542041
|
|
Alzheimer's Disease
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0.010 |
GeneticVariation
|
BEFREE |
ApoE single nucleotide polymorphisms (SNPs) Cys112Arg (Epsilon-4), and Arg158Cys (Epsilon-2) have been implicated in cardiovascular and Alzheimer's disease, but their role in colorectal cancer (CRC) has not been extensively studied.
|
19455140 |
2009 |
rs11542041
|
|
Arteriosclerosis
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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.
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9649566 |
1998 |
rs11542041
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Arteriosclerosis
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|
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
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Arteriosclerosis
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|
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
|
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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
|
|
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 |
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
|
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Cerebrovascular accident
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|
0.010 |
GeneticVariation
|
BEFREE |
Altogether, 134 Finnish CADASIL patients with p.Arg133Cys mutation were analysed for possible associations between the apolipoprotein E (APOE) genotype, angiotensinogen (AGT) p.Met268Thr polymorphism or neutral p.Ala202Ala NOTCH3 polymorphism and earlier first-ever stroke or migraine.
|
25819272 |
2015 |
rs11542041
|
|
Colorectal Carcinoma
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|
0.010 |
GeneticVariation
|
BEFREE |
ApoE single nucleotide polymorphisms (SNPs) Cys112Arg (Epsilon-4), and Arg158Cys (Epsilon-2) have been implicated in cardiovascular and Alzheimer's disease, but their role in colorectal cancer (CRC) has not been extensively studied.
|
19455140 |
2009 |
rs11542041
|
|
Coronary Arteriosclerosis
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0.010 |
GeneticVariation
|
BEFREE |
The multivariate model included 512 men with coronary artery disease from the REGRESS study who were completely genotyped for eight polymorphisms selected in the univariate procedure (ie, APOA1 G(-75)A, ABCA1 C(-477)T, ABCA1 G1051A, APOC3 T3206G, APOE Arg158Cys, LIPC C(-514)T, LPL Asn291Ser and LPL Ser447Stop).
|
15657615 |
2005 |
rs11542041
|
|
Coronary Artery Disease
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|
0.010 |
GeneticVariation
|
BEFREE |
The multivariate model included 512 men with coronary artery disease from the REGRESS study who were completely genotyped for eight polymorphisms selected in the univariate procedure (ie, APOA1 G(-75)A, ABCA1 C(-477)T, ABCA1 G1051A, APOC3 T3206G, APOE Arg158Cys, LIPC C(-514)T, LPL Asn291Ser and LPL Ser447Stop).
|
15657615 |
2005 |
rs11542041
|
|
Coronary heart disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The multivariate model included 512 men with coronary artery disease from the REGRESS study who were completely genotyped for eight polymorphisms selected in the univariate procedure (ie, APOA1 G(-75)A, ABCA1 C(-477)T, ABCA1 G1051A, APOC3 T3206G, APOE Arg158Cys, LIPC C(-514)T, LPL Asn291Ser and LPL Ser447Stop).
|
15657615 |
2005 |
rs11542041
|
|
Endometrial Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Patients with EH (n = 89), EH concurrent with ECa (n = 76), ECa (n = 186), and healthy controls (n = 1110) were genotyped for five polymorphic variants in the genes involved in metabolism of lipoproteins (APOE Cys112Arg and Arg158Cys), iron (HFE Cys282Tyr and His63Asp), and catecholamines (COMT Val158Met).
|
25741405 |
2015 |
rs11542041
|
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Endometrial Hyperplasia
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|
0.010 |
GeneticVariation
|
BEFREE |
Patients with EH (n = 89), EH concurrent with ECa (n = 76), ECa (n = 186), and healthy controls (n = 1110) were genotyped for five polymorphic variants in the genes involved in metabolism of lipoproteins (APOE Cys112Arg and Arg158Cys), iron (HFE Cys282Tyr and His63Asp), and catecholamines (COMT Val158Met).
|
25741405 |
2015 |
rs11542041
|
|
Hypercholesterolemia
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|
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
|
|
Hypercholesterolemia, Familial
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|
0.010 |
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
|
|
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 |
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
|
|
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
|
|
Hyperlipidemia
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|
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
|
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Hyperlipoproteinemia Type IIa
|
|
0.010 |
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
|
|
Hyperlipoproteinemia Type III
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|
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
|
|
Hyperlipoproteinemia Type III
|
|
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
|
|
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 |