|
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 |
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 |
CTD_human |
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
|
21378990 |
2011 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARCA4-LDLR gene locus (rs1122608, rs2228671, and rs688) and FVIII coagulant activity (FVIII:c) in subjects with (n = 692) or without (n = 291) angiographically confirmed coronary artery disease (CAD).
|
20810930 |
2010 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) can lead to premature coronary heart disease.
|
31248367 |
2019 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Of all the known CAD loci analyzed, the SMARCA4 locus near the LDLR had the strongest negative association with CAD in this high-risk FH cohort.
|
24219970 |
2014 |
|
Coronary Artery Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
The History of the WHHL Rabbit, an Animal Model of Familial Hypercholesterolemia (I) - Contribution to the Elucidation of the Pathophysiology of Human Hypercholesterolemia and Coronary Heart Disease.
|
31748469 |
2020 |
|
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 |
Biomarker
|
disease |
BEFREE |
This disease, which is due to mutation in the low density lipoprotein (LDL) receptor gene and results in deficiency of the LDL receptor, is associated with hypercholesterolemia and premature development of coronary heart disease.
|
12119548 |
2002 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We concluded that the heterozygosity in LDLR-rs72658855and rs2228671 and T allele in LDLR rs2228671are strongly associated with an increased susceptibility to coronary artery disease.
|
31613733 |
2020 |
|
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 |
The C766T low-density lipoprotein receptor related protein polymorphism and coronary artery disease, plasma lipoproteins, and longevity in the Czech population.
|
11357934 |
2001 |
|
Coronary Artery Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Proprotein convertase subtilisin kexin type 9 (PCSK9) promotes the degradation of the low-density lipoprotein (LDL) receptor (LDLR), and its deficiency in humans results in low plasma LDL cholesterol and protection against coronary heart disease.
|
25070550 |
2014 |
|
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 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the PRS identified about 6% to 7% of individuals at CAD risk similar to carriers of the LDLR delta >15 kb mutation, consistent with previous estimates.
|
31184202 |
2019 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipoprotein metabolism that mainly occurs due to mutations in the low-density lipoprotein receptor gene and is characterized by increased levels of low-density lipoprotein cholesterol, leading to accelerated atherogenesis and premature coronary heart disease.
|
31633867 |
2020 |
|
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 |
Biomarker
|
disease |
CTD_human |
Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease.
|
27135400 |
2016 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Except for certain polymorphisms in lipid genes (i.e., apolipoprotein E [apo E]) or rare genetic variations (i.e., LDL receptor), which have a causal effect on both the intermediate (LDL-cholesterol level in plasma) and the clinical phenotypes (CAD/MI), the role of most gene polymorphisms is controversial or unknown.
|
11258599 |
2000 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is an autosomal dominant disorder caused by mutations in the low-density lipoprotein receptor (LDLR) gene; it is characterized by a high concentration of LDL, which frequently gives rise to tendon xanthomas and premature coronary artery disease (CAD).
|
11310584 |
2001 |
|
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 |
An oxidized low-density lipoprotein receptor gene variant is inversely associated with the severity of coronary artery disease.
|
15562935 |
2004 |
|
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 |
Increased expression of the low-density lipoprotein receptor (LDLR) is generally considered beneficial for reducing plasma cholesterol and atherosclerosis, and its downregulation has been thought to explain the association between apolipoprotein (apo) E4 and increased risk of coronary heart disease in humans.
|
12969990 |
2004 |
|
Coronary Artery Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We determined all cause mortality in kindreds with the disorder, who were untreated, in order to study (a) additional risk factors for coronary artery disease (CAD) and (b) the types of LDL receptor gene mutations that may contribute to a poor prognosis.
|
10729393 |
2000 |