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 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 GeneticVariation disease BEFREE ABCA1 mutations can cause a severe HDL deficiency syndrome characterized by cholesterol deposition in tissue macrophages and prevalent atherosclerosis. 16183915 2005
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 AlteredExpression disease BEFREE Therefore, EC ABCA1 overexpression has no toxic effects and counteracts the two key drivers of atherosclerosis: cholesterol accumulation and inflammation. 30079772 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 AlteredExpression disease BEFREE Here, we attempted to clarify the potential contribution of miR-20a/b in post-transcriptional regulation of ABCA1, cholesterol efflux, and atherosclerosis. 28602962 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 Biomarker disease BEFREE We previously demonstrated that subjects with functional ATP-binding cassette (ABC) A1 mutations have increased atherosclerosis, which has been attributed to the role of ABCA1 in reverse cholesterol transport. 26109739 2015
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 Biomarker disease LHGDN Severe Tangier disease with a novel ABCA1 gene mutation. 18955690 2008
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 AlteredExpression disease BEFREE In vitro studies demonstrated that HIV-1 protein Nef inhibits activity of ABCA1, the main cellular cholesterol transporter, leading to cholesterol accumulation in macrophages and conversion of these cells into foam cells, characteristic for atherosclerosis. 27649790 2017
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 In studies with transgenic mice, disruption of ABCA1 genes can induce atherosclerosis. 16258026 2005
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 Biomarker disease LHGDN Taken together, the current study demonstrates that APN might protect against atherosclerosis by increasing HDL assembly through enhancing ABCA1 pathway and apoA-1 synthesis in the liver. 17521614 2007
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 AlteredExpression disease BEFREE Therefore, we demonstrated that Tofacitinib could attenuate atherosclerosis and foam cells formation by inhibiting inflammation and upregulating ABCA1 expression. 28601639 2017
CUI: C0004153
Disease: Atherosclerosis
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
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 Biomarker disease BEFREE Our studies suggest that the IL-8-miR-183-ABCA1 axis may play an intermediary role in the development of atherosclerosis. 29703573 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 Biomarker disease BEFREE ATP-binding cassette A1 (ABCA1) plays a key role in generating high-density lipoprotein (HDL) and preventing atherosclerosis. 30872611 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 AlteredExpression disease BEFREE In vivo experiments revealed that chronic administration of ADMA for 4 weeks exacerbated systemic inflammation, decreased the aortic protein levels of ABCA1 and ABCG1, and impaired the capacity of reverse cholesterol transport, ultimately, leading to the progression of atherosclerosis in apoE<sup>-/-</sup> mice. 31437479 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 AlteredExpression disease BEFREE Activation of macrophage ABCA1/G1 expression and cholesterol efflux is believed one of the mechanisms by which PPARγ inhibits atherosclerosis. 27890613 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 AlteredExpression disease BEFREE SIRT1 activator E1231 protects from experimental atherosclerosis and lowers plasma cholesterol and triglycerides by enhancing ABCA1 expression. 29787963 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 Biomarker disease BEFREE Apolipoprotein A-I (apoA-I) is the major component of HDL and central to the ability of HDL to stimulate ATP-binding cassette transporter A1 (ABCA1)-dependent, antiatherogenic export of cholesterol from macrophage foam cells, a key player in the pathology of atherosclerosis. 27630170 2016
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 Biomarker disease BEFREE We identified the NF-κB target miR-9-5p as a negative regulator of ABCA1 adding a novel target pathway in the relationship between inflammation and HDL-driven reverse cholesterol transport for prevention or treatment of atherosclerosis in MS. 29584810 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 Biomarker disease BEFREE Furthermore, we identify Abca12 as a mediator of Abca1-regulated cellular cholesterol efflux, a finding that may have significant implications for other diseases of lipid metabolism and homeostasis, including atherosclerosis. 18802465 2008
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 Biomarker disease BEFREE In the arterial wall, excess cholesterol in macrophages is associated with atherosclerosis; here, ABCA1 is anti-atherogenic because it enables macrophages to rid themselves of excess cholesterol. 17324574 2007
CUI: C0004153
Disease: Atherosclerosis
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
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.400 Biomarker disease BEFREE (Carboxymethyl)lysine-modified albumin isolated from poorly controlled type 1 diabetic patients impairs ABCA-1-mediated reverse cholesterol transport and elicits intracellular lipid accumulation, possibly contributing to atherosclerosis. 23015358 2013