Coronary Arteriosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is an autosomal dominant genetic condition causing a high risk of coronary heart disease.
|
22469073 |
2012 |
Coronary Arteriosclerosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
ApoE⁻/⁻ and low density lipoprotein receptor (LDLr)⁻/⁻ mice have been extensively used for studies of coronary atherosclerosis.
|
21398511 |
2011 |
Coronary Arteriosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We therefore investigated whether the LDLR locus interacted with the apolipoprotein E gene genotype on coronary heart disease risk in patients clinically diagnosed with familial hypercholesterolemia with and without LDLR mutation.
|
22010136 |
2011 |
Coronary Arteriosclerosis
|
0.400 |
Biomarker
|
disease |
CTD_human |
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
|
21378990 |
2011 |
Coronary Arteriosclerosis
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Moreover, of the 8 sex-biased genes at these loci, 4 have been directly linked to monogenic disorders of lipid metabolism and show an expression profile in females (elevated expression of ABCA1, APOA5 and LDLR; reduced expression of LIPC) that is consistent with the lower female risk of coronary artery disease.
|
21858147 |
2011 |
Coronary Arteriosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is associated with an increased risk of premature coronary heart disease.
|
20964105 |
2010 |
Coronary Arteriosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Homozygous FH having inheritance of two LDLR mutations is a rare but recognized syndrome associated with an extreme hypercholesterolaemia and early-onset coronary artery disease.
|
20736250 |
2010 |
Coronary Arteriosclerosis
|
0.400 |
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 Arteriosclerosis
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
PCSK9 regulates low density lipoprotein receptor (LDLR) levels and consequently is a target for the prevention of atherosclerosis and coronary heart disease.
|
19001363 |
2009 |
Coronary Arteriosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipoprotein metabolism caused by mutations in the low-density lipoprotein receptor (LDL-R) gene, leading to elevated levels of cholesterol and an increased risk of coronary heart disease.
|
19073363 |
2009 |
Coronary Arteriosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
PCSK9 gain of function mutations cause hypercholesterolaemia by a reduction of LDL receptor levels, while PCSK9 loss of function variants are associated with a reduction of LDL-C values and a decreased risk of coronary heart disease.
|
18708425 |
2008 |
Coronary Arteriosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study.
|
18714375 |
2008 |
Coronary Arteriosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH), caused by low density lipoprotein (LDL) receptor (LDL-R) gene mutations, is associated with increased risk of premature coronary heart disease.
|
18701038 |
2008 |
Coronary Arteriosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LDLR gene lead to increased plasma cholesterol levels, resulting in cholesterol deposition in the arteries, thereby increasing the risk of premature coronary heart disease.
|
17274457 |
2006 |
Coronary Arteriosclerosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
These data confirm the genetic heterogeneity of LDLR mutations in the UK and the deleterious effect of mutations in exon 3 or 4 of LDLR on receptor function, lipids and severity of coronary heart disease.
|
16389549 |
2006 |
Coronary Arteriosclerosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Although genes coding for PPARs (alpha, gamma), CD36, LDLR showed correlation with the severity of coronary atherosclerosis , blood cellular LXRalpha genomic profile showed conspicuous negative correlation with the severity of coronary atherosclerosis in subjects with or without hypercholesterolemia.
|
16252156 |
2006 |
Coronary Arteriosclerosis
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
CETP (cholesteryl ester transfer protein) and HL (hepatic lipase) play a role in the metabolism of plasma lipoproteins, but the effects of CETP and LIPC (gene encoding HL) genotypes on coronary atherosclerosis may be dependent on LDL (low-density lipoprotein)-receptor activity.
|
16822236 |
2006 |
Coronary Arteriosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
An oxidized low-density lipoprotein receptor gene variant is inversely associated with the severity of coronary artery disease.
|
15562935 |
2004 |
Coronary Arteriosclerosis
|
0.400 |
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 Arteriosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol levels that is associated with mutations in the genes LDLR (encoding low-density lipoprotein receptor) or APOB (encoding apolipoprotein B).
|
12730697 |
2003 |
Coronary Arteriosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Influence of exonic polymorphisms in the gene for LDL receptor-related protein (LRP) on risk of coronary artery disease.
|
12732394 |
2003 |
Coronary Arteriosclerosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Role of LDL receptor-related protein (LRP) in coronary atherosclerosis.
|
14659844 |
2003 |
Coronary Arteriosclerosis
|
0.400 |
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 Arteriosclerosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
The LDL receptor-related protein (LRP1/A2MR) and coronary atherosclerosis--novel genomic variants and functional consequences.
|
12402342 |
2002 |
Coronary Arteriosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A 3.5 y-old girl carrying a severe mutation of the LDL-receptor gene known as "FH Pavia", affected by homozygous familial hypercholesterolaemia (FH), and at high risk of developing coronary artery atherosclerosis was treated with selective dextran sulphate cellulose (DSC) column low-density lipoprotein apheresis (LDL-a).
|
11440106 |
2001 |