ABCA1, ATP binding cassette subfamily A member 1, 19

N. diseases: 291; N. variants: 116
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 Biomarker disease BEFREE Thus, the ABCA1 pathway has become an important therapeutic target for mobilizing excess cholesterol from tissue macrophages and protecting against atherosclerosis. 10882340 2000
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 Biomarker disease BEFREE These combined findings provide insights into ABCA1-mediated regulation of cellular cholesterol metabolism and will facilitate the identification of new pharmacologic agents for the treatment of atherosclerosis in humans. 10884428 2000
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 Biomarker disease BEFREE Thus, ABCA1 plays a critical role in modulating flux of tissue cholesterol and phospholipids into the reverse cholesterol transport pathway, making it an important therapeutic target for clearing excess cholesterol from macrophages and preventing atherosclerosis. 11111099 2000
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 AlteredExpression disease BEFREE The specific upregulation of ABC1 mRNA in the setting of atherosclerosis probably reflects the response of leukocytes to cholesterol loading. 11231917 2001
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 Biomarker disease BEFREE Pivotal role of ABCA1 in reverse cholesterol transport influencing HDL levels and susceptibility to atherosclerosis. 11714841 2001
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 GeneticVariation disease BEFREE Mutations in ABCA1 cause Tangier disease (TD), a severe HDL deficiency syndrome characterized by accumulation of cholesterol in tissue macrophages and prevalent atherosclerosis. 11483617 2001
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 AlteredExpression disease LHGDN In summary, these results establish that, in the presence of apoE, overexpression of ABCA1 modulates HDL as well as apoB-containing lipoprotein metabolism and reduces atherosclerosis in vivo, and indicate that pharmacological agents that will increase ABCA1 expression may reduce atherogenic risk in humans. 11752403 2002
CUI: C0004153
Disease: Atherosclerosis
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
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 AlteredExpression disease BEFREE In this study, we determined the effect of overexpression of ABCA1 on atherosclerosis development. 12093886 2002
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 AlteredExpression disease BEFREE In summary, these results establish that, in the presence of apoE, overexpression of ABCA1 modulates HDL as well as apoB-containing lipoprotein metabolism and reduces atherosclerosis in vivo, and indicate that pharmacological agents that will increase ABCA1 expression may reduce atherogenic risk in humans. 11752403 2002
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 AlteredExpression disease LHGDN In this study, we determined the effect of overexpression of ABCA1 on atherosclerosis development. 12093886 2002
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 Biomarker disease BEFREE These results show a direct relation between ABCA1-mediated cellular cholesterol efflux and arterial-wall thickness, and therefore suggest that increasing efflux could inhibit atherosclerosis progression before the manifestation of symptomatic cardiovascular disease. 11809185 2002
CUI: C0004153
Disease: Atherosclerosis
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
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 AlteredExpression disease BEFREE Recent analyses of ABCA1 indicate that upregulation of ABCA1 in the liver and macrophages of transgenic mice is associated with increased plasma high-density lipoprotein (HDL) cholesterol levels, increased net flux of cholesterol to the liver, and reduced diet-induced atherosclerosis. 12679197 2003
CUI: C0004153
Disease: Atherosclerosis
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
CUI: C0004153
Disease: Atherosclerosis
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
CUI: C0004153
Disease: Atherosclerosis
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
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 Biomarker disease LHGDN In particular, the relative contribution of hepatic and peripheral ABCA1 to plasma HDL levels and to reverse cholesterol transport, as well as the potential role of ABCA1 in modulating the plasma concentrations of the apolipoprotein B-containing lipoproteins and protecting against atherosclerosis, seem to be promising areas of investigation. 12615681 2003
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 Biomarker disease BEFREE In particular, the relative contribution of hepatic and peripheral ABCA1 to plasma HDL levels and to reverse cholesterol transport, as well as the potential role of ABCA1 in modulating the plasma concentrations of the apolipoprotein B-containing lipoproteins and protecting against atherosclerosis, seem to be promising areas of investigation. 12615681 2003
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 GeneticVariation disease BEFREE 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
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 GeneticVariation disease BEFREE The R219K polymorphism in the ATP-binding cassette transporter 1 gene ( ABCA1) has been associated with reduced severity of atherosclerosis, fewer coronary events, decreased triglycerides and a trend to increased HDL in men with coronary heart disease (CHD). 12700893 2003
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 GeneticVariation disease BEFREE Genetic aberrations in ABCA1 cause perturbations in lipoprotein metabolism and contribute to atherosclerosis. 12437993 2003
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 Biomarker disease BEFREE Our findings indicate the existence of an ABCA1-independent but cytoskeleton-dependent cholesterol removal pathway that may help to prevent early atherosclerosis in Tangier disease but may also be sensitive to aging phenomena ex vivo and possibly in vivo. 15001567 2004
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 Biomarker disease BEFREE By regulating the cellular cholesterol efflux from peripheral cells to high-density lipoprotein, the ABCA1 protein is suspected to play a key role in lipid homeostasis and atherosclerosis. 14962947 2004
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 AlteredExpression disease BEFREE To determine whether differences observed at a local level were reflected in the systemic circulation, we measured ABCA1 mRNA in leukocytes of 10 patients undergoing carotid endarterectomy and 10 controls without phenotypic atherosclerosis. 15528463 2004