|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The phenotype of the ABCA1-deficient mouse parallels the phenotype observed in human Tangier disease, including substantial reductions in both apolipoprotein B and apolipoprotein AI with confounding affects on atherosclerosis.
|
12615679 |
2003 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
ABCA1 mutations can cause a severe HDL deficiency syndrome characterized by cholesterol deposition in tissue macrophages and prevalent atherosclerosis.
|
16183915 |
2005 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This study was performed to test the reported association between the -565C>T polymorphism and atherosclerosis severity and to investigate whether this variant per se had an effect on promoter activity of the ABCA1 gene.
|
15528481 |
2005 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
The K allele of the R219K variant was significantly more frequent in FH subjects without premature CHD (0.32, 95% CI 0.27 to 0.37) than in FH subjects with premature CHD (0.25, 95% CI 0.21 to 0.29) (p<0.05), suggesting that the genetic variant R219K in ABCA1 could influence the development and progression of atherosclerosis in FH subjects.
|
12624133 |
2003 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, loss of MeXis in mouse bone marrow cells alters chromosome architecture at the Abca1 locus, impairs cellular responses to cholesterol overload, and accelerates the development of atherosclerosis.
|
29431742 |
2018 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, the effect of TLR4, APOE and ABCA1 variants on AMD susceptibility was opposite to that of association with atherosclerosis risk.
|
15829498 |
2005 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this study we review how genetic variation at the ABCA1 locus affects its role in the maintenance of lipid homeostasis and the natural progression of atherosclerosis.
|
12763760 |
2003 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The present meta-analysis suggested that the ABCA1 R219K and M883I polymorphisms were associated with the susceptibility to AS.
|
24466114 |
2014 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Variants in the adenosine triphosphate-binding-cassette transporter 1 (ABCA1) gene are known to affect high-density lipoprotein cholesterol and plasma triglycerides and the development of atherosclerosis.
|
18803945 |
2008 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The presence of a damaging mutation in ABCA1 or APOA1 confers an increased risk of atherosclerosis relative to patients without such a mutation at a comparable level of HDL cholesterol, possibly because of a reduction in CEC.
|
29150341 |
2019 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
In this study we review how genetic variation at the ABCA1 locus affects its role in the maintenance of lipid homeostasis and the natural progression of atherosclerosis.
|
12763760 |
2003 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Carotid intima-media thickness (cIMT) measurements were obtained in cases comprising 10 different mutations in LCAT, ABCA1 and APOA1 to further evaluate the relationship between low HDL resulting from genetic variation and early atherosclerosis.
|
17113061 |
2007 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human ABCA1 cause severe HDL deficiencies characterized by the virtual absence of apoA-I and HDL and prevalent atherosclerosis.
|
16207713 |
2005 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In humans, ABCA1 mutations can cause a severe HDL-deficiency syndrome characterized by cholesterol deposition in tissue macrophages and prevalent atherosclerosis.
|
21039336 |
2011 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
For the ABCA1 C69T polymorphism, six studies involving 1854 AS cases and 5744 controls were combined showing significant association between this variant and AS risk (for T allele vs. C allele: OR =1.44, 95% CI =1.04-1.24, p =0.005; for T/T vs. C/C: OR =1.39, 95% CI =1.12-1.73, p =0.003; for T/T vs. C/T+C/C: OR =1.34, 95% CI =1.09-1.65, p =0.006; for T/T+C/T vs. C/C: OR =1.13, 95% CI =1.01-1.27, p =0.040).
|
25527331 |
2015 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Insufficient ABCA1 activity may lead to increased risk of atherosclerosis due to reduced HDL formation and cholesterol efflux.
|
22811478 |
2012 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here we review the current status of the pathway of HDL biogenesis and mutations in apoA-I, ABCA1, and SR-BI that disrupt different steps of the pathway and may lead to dyslipidemia and atherosclerosis in mouse models.
|
16501936 |
2006 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We describe a patient with a unique phenotype of Tangier disease from a novel splice site mutation in the ABCA1 gene that is associated with a central nervous system presentation resembling multiple sclerosis, and the presence of premature atherosclerosis.
|
23351586 |
2013 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We compared the consequences of an ABCA1 mutation that produced an apparent lack of atherosclerosis (Tangier family 1, N935S) with an ABCA1 mutation with functional ABCA1 knockout that was associated with severe atherosclerosis (Tangier family 2, Leu(548):Leu(575)-End), using primary and telomerase-immortalized fibroblasts.
|
24196952 |
2013 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Associations between two common polymorphisms in the ABCA1 gene and subclinical atherosclerosis: Multi-Ethnic Study of Atherosclerosis (MESA).
|
16879828 |
2007 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Intima media thickness studies have provided evidence that hypoalphalipoproteinemia due to mutations in apoA-I, ABCA1, and LCAT is associated with increased progression of atherosclerosis.
|
15767853 |
2005 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cyclosporin A (CsA) is an immunosuppressant that inhibits protein phosphatase 2B (PP2B/calcineurin) and is associated with hyperlipidemia, decreased cholesterol efflux via ATP-binding cassette transporter A1 (ABCA1), and increased risk of atherosclerosis.
|
19589783 |
2009 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that common variation in non-coding regions of ABCA1 may significantly alter the severity of atherosclerosis, without necessarily influencing plasma lipid levels.
|
11940086 |
2002 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
HIV-infected patients are at an increased risk of developing atherosclerosis, in part because of downmodulation and functional impairment of ATP-binding cassette A1 (ABCA1) cholesterol transporter by the HIV-1 protein Nef.
|
27470515 |
2016 |
|
Atherosclerosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Homozygous and heterozygous mutations in the ABCA1 gene may be associated with increased atherosclerosis.
|
20533173 |
2011 |