|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A DNA probe for the LDL receptor gene is tightly linked to hypercholesterolemia in a pedigree with early coronary disease.
|
2876626 |
1986 |
|
Coronary Artery Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
This variation in level of the LDL receptor ligand appears to have predictive value, and may have an etiologic role, in coronary artery disease.
|
3414686 |
1988 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Homozygotes and compound heterozygotes (i.e., those who carry two different FH genes) are very rare (one in 1,000,000) have severe hypercholesterolemia with xanthomas, and develop coronary heart disease early in life.
|
2563220 |
1989 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Patients with two abnormal LDL receptor genes (homozygous deficient patients) have severe hypercholesterolemia and life-threatening coronary artery disease in childhood.
|
1391038 |
1992 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This result suggests the possibility that genetic variation at the LDL receptor locus or a closely linked locus on chromosome 19 may be responsible for metabolic alterations in ALP pattern B that account for a substantial proportion of the familial predisposition to coronary artery disease in the general population.
|
1731344 |
1992 |
|
Coronary Artery Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Persons with hFH generally manifest elevations of low density lipoprotein (LDL) cholesterol throughout their lives and have a markedly increased risk of death from coronary artery disease.
|
8105671 |
1993 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The presence of mutant apo B-100 in low-density lipoproteins (LDL) markedly reduces their affinity for the LDL receptor, leading to hypercholesterolaemia and increased proneness to coronary artery disease.
|
8141833 |
1993 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia.
|
8098448 |
1993 |
|
Coronary Artery Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The relation of LDL receptor activity to lipoprotein(a) plasma concentration in patients without coronary artery disease.
|
8187228 |
1994 |
|
Coronary Artery Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolaemia is a co-dominant inherited disorder of lipoprotein metabolism, in which defects in the gene for the low-density-lipoprotein (LDL) receptor result in a twofold increase in the plasma concentration of cholesterol and moderate-to-severe premature coronary heart disease.
|
17607901 |
1995 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study suggests that increased risk of CAD in FH is not solely due to elevated LDL cholesterol levels and demonstrates a sex-specific lipoprotein influence on CAD in a large sample of FH patients carrying the same LDL receptor gene defect.
|
7634440 |
1995 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recent interest in atherosclerosis has focused on the genetic determinants of low-density lipoprotein (LDL) particle size, because of (i) the association of small dense LDL particles with a three-fold increased risk for coronary artery disease (CAD) and (ii) the recent report of linkage of the trait to the LDL receptor (chromosome 19).
|
8644718 |
1996 |
|
Coronary Artery Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
CAD was present in 33% and plaques in the carotid arteries in 82% of the patients with LDLR defects.
|
9360938 |
1996 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Comparison of the effect of two low-density lipoprotein receptor class mutations on coronary heart disease among French-Canadian patients heterozygous for familial hypercholesterolaemia.
|
9179542 |
1997 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is caused by mutations in the LDL receptor (LDLR) gene and is usually associated with hypercholesterolemia, lipid deposition in tissues, and premature coronary artery disease (CAD).
|
9484998 |
1998 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Relationships of abdominal obesity and hyperinsulinemia to angiographically assessed coronary artery disease in men with known mutations in the LDL receptor gene.
|
9521335 |
1998 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the present study, the association of the heterozygous forms of low-density lipoprotein receptor gene mutations causing FH as well as of LPL gene mutations causing (P207L and G188E) or not causing (D9N and N291S) complete loss of LPL activity with angiographically assessed CAD was estimated in a cohort of 412 French Canadian men aged <60 years who consecutively underwent coronary angiography for the investigation of retrosternal pain.
|
9708657 |
1998 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH), a monogenic disease known to be caused by low-density lipoprotein receptor (LDLR) gene mutations, results in the development of premature atherosclerosis and coronary artery disease in affected individuals.
|
9889019 |
1998 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH), a monogenic trait due to mutations in the LDL-receptor (R) gene is characterized by raised plasma LDL-C levels and premature CAD.
|
10208490 |
1999 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolaemia (FH) is caused by mutations in the low-density lipoprotein (LDL)-receptor gene that result in impaired clearance of plasma LDL and increased risk of coronary heart disease.
|
10563483 |
1999 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The primary loci that have been demonstrated to be associated with increased CAD risk owing to genetic mutations include the low-density lipoprotein receptor, apolipoprotein B-100, and lipoprotein(a).
|
10583926 |
1999 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Effects of Ava II and Hinc II polymorphisms at the LDL receptor gene on serum lipid levels of Brazilian individuals with high risk for coronary heart disease.
|
10633291 |
1999 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
FH is caused by mutations in the low-density lipoprotein receptor (LDLR) gene and is characterized by raised plasma LDL-cholesterol, tendon xanthomas, and premature coronary heart disease.
|
10208489 |
1999 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study demonstrates that Apo E, Apo B and LDLR gene polymorphisms are associated with CAD in Brazilian Caucasian women.
|
10958870 |
2000 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to detect mutations in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in patients of Southeast Asian origin with clinically diagnosed familial hypercholesterolemia (FH) and to relate these findings with the observed lower incidence of coronary heart disease in this part of the world.
|
11005141 |
2000 |