|
Cardiovascular Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Familial hypercholesterolaemia (FH) is a common single gene disorder, pre-disposing to cardiovascular disease, which is most commonly caused by mutations in the LDL-receptor (LDLR) gene.
|
18700895 |
2008 |
|
Cardiovascular Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Familial hypercholesterolemia (FH) is an autosomal-dominant disorder mostly caused by mutations in the low-density lipoprotein receptor (LDLR) gene leading to increased risk for premature cardiovascular diseases.
|
25378237 |
2015 |
|
Cardiovascular Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in LDLR, APOB and PCSK9 genes may lead to Familial Hypercholesterolemia, an autosomal dominant disorder which in turn leads to cardiovascular diseases.
|
26927322 |
2016 |
|
Cardiovascular Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In a previous study, analysis of the genetic LDLR variant rs688 provided evidence suggesting that genetic polymorphisms of rs688 are associated with thrombotic cardiovascular diseases.
|
24295502 |
2014 |
|
Cardiovascular Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
Evidence suggests that a functional interaction between apoE and LDLR influences the risk of CVD and AD.
|
24412220 |
2014 |
|
Cardiovascular Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Familial Hypercholesterolemia (FH) is an autosomal dominant disorder mainly caused by mutations in the LDLR gene, resulting in elevated serum cholesterol levels and elevated risk of premature cardiovascular disease (CVD).
|
29096865 |
2017 |
|
Cardiovascular Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Inherited abnormalities in apolipoprotein E (ApoE) or low-density lipoprotein receptor (LDLR) function result in early onset cardiovascular disease and death.
|
30654068 |
2019 |
|
Cardiovascular Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Homozygous familial hypercholesterolemia (hoFH) is caused by mutations in the low-density lipoprotein receptor gene and is characterized by severe hypercholesterolemia from birth and onset of premature cardiovascular disease (CVD) during childhood.
|
19026292 |
2008 |
|
Cardiovascular Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The risk of CVD is higher in those patients with an Lp(a) level >50 mg/dl and carrying a receptor-negative mutation in the LDLR gene compared with other less severe mutations.
|
24632281 |
2014 |
|
Cardiovascular Diseases
|
0.200 |
AlteredExpression
|
group |
BEFREE |
Indeed, the identification of the low-density lipoprotein (LDL)-receptor and the unraveling of its transcriptional regulation led to the elucidation of familial hypercholesterolemia as well as to the development of statins, the most successful therapeutics for lowering of cholesterol levels and risk of atherosclerotic cardiovascular diseases.
|
29980055 |
2018 |
|
Cardiovascular Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Familial hypercholesterolaemia, an autosomal co-dominant disorder caused by defects in the low-density lipoprotein receptor gene, is strongly associated with premature development of cardiovascular disease.
|
9767373 |
1998 |
|
Cardiovascular Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We studied the experiences of children identified by family screening who were found to be a mutation carrier for a genetic cardiovascular disease (Long QT Syndrome (LQTS), Hypertrophic Cardiomyopathy (HCM), Familial Hypercholesterolemia (FH)).
|
19012345 |
2008 |
|
Cardiovascular Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
To compare the association of triglyceride-lowering variants in the lipoprotein lipase (LPL) gene and LDL-C-lowering variants in the LDL receptor gene (LDLR) with the risk of cardiovascular disease per unit change in ApoB.
|
30694319 |
2019 |
|
Cardiovascular Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
These results suggest that the fourth cysteine residue of the first ligand-binding domain of the LDLR might be important for the internalization of atherogenic lipoproteins by vascular cells despite reduced LDL uptake, leading to atherosclerosis and premature cardiovascular disease.
|
15459764 |
2004 |
|
Cardiovascular Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Our data indicate that genetic variation at the LDLR locus can affect baseline lipids, response to pravastatin, and CVD risk in subjects placed on statin treatment.
|
18261733 |
2008 |
|
Cardiovascular Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Familial hypercholesterolemia (FH) is a common genetic cause of premature cardiovascular disease (CVD).
|
30050433 |
2018 |
|
Cardiovascular Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Other key aspects of lipoprotein metabolism and cardiovascular disease risk such as apolipoprotein B-100, the LDL receptor, apolipoprotein C-III or apolipoprotein (a) will be updated.
|
12589187 |
2003 |
|
Cardiovascular Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Familial hypercholesterolemia (FH) is mostly caused by low-density lipoprotein receptor (LDLR) mutations and results in an increased risk of early-onset cardiovascular disease due to marked elevation of LDL cholesterol (LDL-C) in blood.
|
30272645 |
2018 |
|
Cardiovascular Diseases
|
0.200 |
AlteredExpression
|
group |
BEFREE |
Characterization of the interplay between these hormone receptors on the LDLR in vitro system may allow a better understanding of the actions of sex steroids on LDLR gene expression and their roles in cardiovascular disease.
|
9275065 |
1997 |
|
Cardiovascular Diseases
|
0.200 |
AlteredExpression
|
group |
BEFREE |
Of particular importance for CVD, inhibition of miR-148a may prove an important therapeutic approach for combating dyslipidemia, as this has been demonstrated to both raise plasma HDL levels and lower LDL levels in mice by targeting both ABCA1 and LDLR, respectively.
|
26828754 |
2016 |
|
Cardiovascular Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In the field of lipoprotein metabolism and cardiovascular disease several gene polymorphisms for key proteins, such as apoproteins (apo) E, B, A-IV and C-III, LDL receptor, microsomal transfer protein (MTP), fatty acid-binding protein (FABP), cholesteryl ester transfer protein (CETP), lipoprotein lipase and hepatic lipase, have been identified and linked to variable responses to diets.
|
12691171 |
2002 |
|
Cardiovascular Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease.
|
12442279 |
2002 |
|
Cardiovascular Diseases
|
0.200 |
Biomarker
|
group |
BEFREE |
Given that LDL-C was also reduced in a group of clinically unaffected heterozygotes, we propose that increasing LDL receptor-mediated cholesterol clearance by targeting N-glycosylation in the LDL pathway may represent a novel therapeutic strategy to reduce LDL-C and cardiovascular disease.
|
31117816 |
2019 |
|
Cardiovascular Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
This study confirms the importance of identifying some classic risk factors such as smoking and TC/HDL-C ratio, and also the type of mutation in LDLR gene in order to implement early detection and intensive treatment for the prevention of cardiovascular disease in FH patients.
|
18243212 |
2008 |
|
Cardiovascular Diseases
|
0.200 |
GeneticVariation
|
group |
BEFREE |
These results suggest that the genotype of the mutant LDL receptor allele was independently associated with variations in LDL-PPD and could partly explain why negative-receptor FH heterozygotes may be at greater risk of cardiovascular disease than defective-receptor FH subjects.
|
15899484 |
2006 |