Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE ABCA1 variants rs2230806 (rs2230806" genes_norm="19">R219K), rs4149313 (M8831I), and rs9282541 (rs9282541" genes_norm="19">R230C) are associated with susceptibility to coronary heart disease. 31006134 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE Present study aimed to explore the association of ABCA1 rs146292819 polymorphism with CAD development as well as its effect on serum lipid levels in the Pakistani population. 30945099 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE We aimed to explore the association of single nucleotide polymorphisms (SNPs) in the ATP-binding cassette subfamily A member 1 (<i>ABCA1</i>) and lifestyle factors with coronary artery disease (CAD) in dyslipidemia. 30836684 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 AlteredExpression disease BEFREE However, the expression of the low-density lipoprotein receptor and ATP-binding cassette transporter A1 was markedly increased, indicating that the beneficial effect of statins in allergic asthma and coronary artery disease was mediated, at least in part, by decreasing cholesterol biosynthesis and foam cell formation. 31558320 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE CETP rs5882 (OR = 1.45, P < 0.005) and ABCA1 rs2230806 (OR = 1.42, P = 0.017) polymorphisms were associated with increased risk of CAD. 26936456 2016
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 AlteredExpression disease BEFREE The proinflammatory enzyme myeloperoxidase induces both oxidative modification and nitrosylation of specific residues on plasma and arterial apolipoprotein A-I to render HDL dysfunctional, which results in impaired ABCA1 macrophage transport, the activation of inflammatory pathways, and an increased risk of coronary artery disease. 26323267 2016
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE Evaluation of Adenosine Triphosphate-Binding Cassette Transporter A1 (ABCA1) R219K and C-Reactive Protein Gene (CRP) +1059G/C Gene Polymorphisms in Susceptibility to Coronary Heart Disease. 27560308 2016
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE Association of ATP-binding cassette transporter A1 gene polymorphisms with plasma lipid variability and coronary heart disease risk. 26722555 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE The R219K polymorphism on ATP-binding cassette transporter A1 gene is associated with coronary heart disease risk in Asia population: evidence from a meta-analysis. 25104170 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE Among polymorphisms in ATP-binding cassette transporter A1 (ABCA1) gene, the available evidence demonstrates that the ABCA1 R219K polymorphism (G1051A, rs2230806) K allele is associated with a higher high-density lipoprotein cholesterol (HDL- C) level and may play a protective role against coronary artery disease (CAD) risk in Asians and Caucasians. 25877294 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE Importantly, a few distant transcripts were also found to be associated with the variants in this region, including the well-known CAD risk gene ABCA1 (p = 1.01e-05). 25958224 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE Association between the ABCA1-565C/T gene promoter polymorphism and coronary heart disease severity and cholesterol efflux in the Chinese Han population. 26090796 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE ABCA1 rs4149313 polymorphism and susceptibility to coronary heart disease: a meta-analysis. 24942079 2014
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 AlteredExpression disease BEFREE More in-depth gene expression analysis identified several interesting genes, such as ABCA1, CD36 and MSR1 with an increased expression in circulating monocytes from patients with CAD. 23739627 2013
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 PosttranslationalModification disease BEFREE ABCA1 DNA methylation levels were also found associated with prior history of CAD (CAD = 40.2% vs. without CAD = 34.3%; p = 0.003). 22419126 2012
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE Quantitative assessment of the effect of ABCA1 R219K polymorphism on the risk of coronary heart disease. 21643759 2012
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE Furthermore, only mutation carriers with HDLc <5th percentile had elevated risk of CAD (odds ratio (OR)=2.26 for 34 ABCA1 mutation carriers vs. 149 total first-degree relative controls, p=0.05; OR=2.50 for 26 APOA1 mutation carriers, p=0.04; OR=3.44 for 38 LCAT mutation carriers, p=1.1∗10(-3)). 21875686 2012
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE The K allele of the ABCA1 R219K gene has a protective role for CAD risk in Chinese population and is possibly associated with decreased CAD susceptibility. 23053993 2012
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE This is the first study assessing the effect of the R230C/ABCA1 variant in remature CAD. 23152888 2012
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE The carriers of allele 219K were found to have a lower risk of CAD than the non-carriers: OR=0.76, 95% CI=0.68-0.85, P=3.78E-07, P(heterogeneity)=3.59E-08; meanwhile, 18 studies from 17 papers with 12,869 subjects were included in the association between the ABCA1 R219K polymorphism and the level of HDL-C. 21310416 2011
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE On a background of contemporary secondary prevention, variation in the ABCA1 promoter influences 10-year risk of vascular death and angiographic extent of CAD in men. 21840005 2011
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE Genetic variation of the ATP-binding cassette transporter A1 and susceptibility to coronary heart disease. 21300560 2011
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 AlteredExpression disease BEFREE Moreover, of the 8 sex-biased genes at these loci, 4 have been directly linked to monogenic disorders of lipid metabolism and show an expression profile in females (elevated expression of ABCA1, APOA5 and LDLR; reduced expression of LIPC) that is consistent with the lower female risk of coronary artery disease. 21858147 2011
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.200 GeneticVariation disease BEFREE A frequent variant in the ABCA1 gene is associated with increased coronary heart disease risk and a better response to statin treatment in familial hypercholesterolemia patients. 20595220 2011