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rs11542041
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LIPOPROTEIN GLOMERULOPATHY
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0.010 |
GeneticVariation
|
BEFREE |
Lipoprotein glomerulopathy-like disease in a patient with type III hyperlipoproteinemia due to apolipoprotein E2 (Arg158 Cys)/3 heterozygosity.
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17593519 |
2007 |
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rs11542041
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Hyperlipoproteinemia Type III
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0.100 |
GeneticVariation
|
BEFREE |
Type III hyperlipoproteinaemia (HLP) is usually associated with homozygosity for apolipoprotein (apo) E2 (arg-158-->Cys).
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8682150 |
1996 |
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rs11542041
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Hyperlipoproteinemia Type III
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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.
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2912421 |
1989 |
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rs11542041
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Hyperkeratosis lenticularis perstans
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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.
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7883834 |
1995 |
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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.
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25819272 |
2015 |
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rs11542041
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Migraine Disorders
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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.
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25819272 |
2015 |
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rs11542041
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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.
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19455140 |
2009 |
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rs11542041
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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 |
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rs11542041
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Hyperlipoproteinemia Type III
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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 |
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rs11542041
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Hyperlipoproteinemias
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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 |
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rs11542041
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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.
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24953047 |
2014 |
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rs11542041
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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 |
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rs11542041
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Hyperlipoproteinemia Type IIa
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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 |
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rs11542041
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Atherosclerosis
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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 |
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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 |
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rs11542041
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Hypertriglyceridemia
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|
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 |
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rs11542041
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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 |
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rs11542041
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Myocardial Infarction
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0.030 |
GeneticVariation
|
BEFREE |
Further, in contrast to reports from other investigators, we found little evidence for association of a C677T polymorphism in the 5,10-methylenetetrahydrofolate reductase gene, the angiotensin-I-converting enzyme 1 insertion/deletion polymorphism, a 4G/5G polymorphism in the serine/cysteine proteinase inhibitor-clade E-member 1 gene, the factor V Leiden mutation, the G20210A factor II mutation, a -455G>A polymorphism in the beta-fibrinogen gene, the cys112arg/arg158cys apolipoprotein E gene polymorphism, a gly460trp polymorphism in the alpha-adducin gene, and a -629C>A polymorphism in the cholesteryl ester transfer protein gene with risk of MI.
|
16420563 |
2006 |
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rs11542041
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Hyperlipoproteinemia Type III
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|
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 |
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rs11542041
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Hyperlipoproteinemia Type III
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|
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 |
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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 |
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rs11542041
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Hypertriglyceridemia
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|
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 |
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rs11542041
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|
Hyperlipoproteinemia Type III
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|
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 |
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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 |
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rs11542041
|
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Endometrial Carcinoma
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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 |