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 |
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 Arteriosclerosis
|
0.400 |
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 Arteriosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Relative contribution of low-density lipoprotein receptor and lipoprotein lipase gene mutations to angiographically assessed coronary artery disease among French Canadians.
|
9708657 |
1998 |
Coronary Arteriosclerosis
|
0.400 |
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 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 independent variants at PCSK9, HMGCR, LPA, APOA5 and LDLR were also associated with increased risk of coronary artery disease in the expected direction.
|
27516387 |
2016 |
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 |
The effect of LDLR-negative genotype on CT coronary atherosclerosis in asymptomatic statin treated patients with heterozygous familial hypercholesterolemia.
|
23369702 |
2013 |
Coronary Arteriosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is a genetic disorder with an increased risk of early-onset coronary artery disease.
|
25962062 |
2015 |
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 |
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 Arteriosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
LDLR rs6511720 is associated with AAA.This finding is consistent with established effects of this variant on coronary artery disease.
|
24046328 |
2013 |
Coronary Arteriosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Contribution of receptor negative versus receptor defective mutations in the LDL-receptor gene to angiographically assessed coronary artery disease among young (25-49 years) versus middle-aged (50-64 years) men.
|
10208490 |
1999 |
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 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 Arteriosclerosis
|
0.400 |
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 Arteriosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial Hypercholesterolemia (FH) is a common genetic disorder caused most often by mutations in the Low Density Lipoprotein Receptor gene (LDLr) leading to high blood cholesterol levels, and ultimately to development of premature coronary heart disease.
|
30413722 |
2018 |
Coronary Arteriosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Coronary artery disease in heterozygous familial hypercholesterolemia patients with the same LDL receptor gene mutation.
|
7634440 |
1995 |
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 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) can lead to premature coronary heart disease.
|
31248367 |
2019 |
Coronary Arteriosclerosis
|
0.400 |
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 Arteriosclerosis
|
0.400 |
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 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 |
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 |