ABCA1, ATP binding cassette subfamily A member 1, 19

N. diseases: 291; N. variants: 116
Disease: Coronary Artery Disease ×
Source: ALL
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 Biomarker disease BEFREE Each 8% change in ABCA1-mediated efflux is predicted to be associated with a 0.1 mmol/l change in HDL-C. ABCA1 heterozygotes display a greater than threefold increase in the frequency of coronary artery disease (CAD), with earlier onset than unaffected family members. 11086027 2000
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 Biomarker disease BEFREE Preliminary data have suggested that coronary artery disease (CAD) is increased in heterozygotes for ABCA1 deficiency. 11714841 2001
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease BEFREE A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease. 11257260 2001
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease BEFREE Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease. 11257261 2001
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease BEFREE Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease. 11476965 2001
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease BEFREE Mutations within the ABCA1 gene are associated with decreased HDL-C, increased triglycerides, and an increased risk of CAD. 11238261 2001
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease BEFREE ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels. 11940086 2002
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease BEFREE The association of the R219K polymorphism in the ATP-binding cassette transporter 1 ( ABCA1) gene with coronary heart disease and hyperlipidaemia. 12700893 2003
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease BEFREE We explored if polymorphisms in the ABCA1 gene are associated with CAD and variations in plasma lipid levels, especially HDL-C, and whether the associations may depend on ethnicity. 12709788 2003
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease BEFREE Novel polypyrimidine variation (IVS46: del T -39...-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease. 14576201 2003
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease BEFREE Recently, variants in ATP-binding cassette transporter A1 (ABCA1) were demonstrated to be associated with increased level of high density lipoprotein cholesterol (HDL-C) and decreased risk of coronary artery disease (CAD) in Caucasians. 12860256 2003
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease BEFREE ATP-binding cassette transporter A1 locus is not a major determinant of HDL-C levels in a population at high risk for coronary heart disease. 12535741 2003
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease BEFREE A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia. 12624133 2003
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease BEFREE Patients with Tangier disease have mutations in the gene encoding ABCA1, which result in functionally impaired protein, a marked deficiency in HDL cholesterol, and a high risk of premature CAD. 12679198 2003
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease BEFREE ABCA1 gene polymorphisms but not haplotypes are involved in the variability of plasma ApoA1 and the susceptibility to coronary artery disease. 14962947 2004
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease BEFREE In subjects with coronary artery disease (CAD+), the prevalence of FABP-2 54TT genotype was higher (16.5% versus 5.2%) and that of ABCA1 219RK and KK genotypes lower (33.0% versus 51.5%) than in subjects with no CAD. 15135251 2004
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease BEFREE The multivariate model included 512 men with coronary artery disease from the REGRESS study who were completely genotyped for eight polymorphisms selected in the univariate procedure (ie, APOA1 G(-75)A, ABCA1 C(-477)T, ABCA1 G1051A, APOC3 T3206G, APOE Arg158Cys, LIPC C(-514)T, LPL Asn291Ser and LPL Ser447Stop). 15657615 2005
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 Biomarker disease BEFREE ABCA1 predicted HDL (mean, GG = 36.4 mg/dL, AA = 39.2 mg/dL; P = .02) but not CAD (GG 74%, AA 75%; adjusted P = .96, OR = 0.99). 16086925 2005
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease LHGDN Genotypic effect of the -565C>T polymorphism in the ABCA1 gene promoter on ABCA1 expression and severity of atherosclerosis. 15528481 2005
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 Biomarker disease BEFREE ABCA1 gene was initially implicated in Tangier disease and familial hypoalphalipoproteinemia and has been shown to be associated with coronary artery disease and atherosclerosis as well. 16009332 2005
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease BEFREE Mutations in ABCA1, as seen in Tangier disease, result in accumulation of cellular cholesterol, reduced plasma high-density lipoprotein cholesterol, and increased risk for coronary artery disease. 16704350 2006
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease BEFREE The ATP-binding cassette transporter A1 (ABCA1) mediates reverse cholesterol transport, polymorphisms have been shown to influence the levels of cholesterol and of HDL and the risk of coronary artery disease. 16596262 2006
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 Biomarker disease BEFREE These results suggest that defective ABCA1 function in cholesterol-loaded macrophages is one potential contributor to the impaired RCT process and the increased coronary heart disease risk in subjects with familial low HDL. 17372331 2007
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease BEFREE We examined common promoter and non-synonymous coding polymorphisms in relation to age of symptom onset in a group of CAD patients (n = 1164), and also carried out in vitro assays to test effects of the promoter variations on ABCA1 promoter transcriptional activity and effects of the coding variations on ABCA1 function in mediating cellular cholesterol efflux. 17412755 2007
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.200 GeneticVariation disease LHGDN We examined common promoter and non-synonymous coding polymorphisms in relation to age of symptom onset in a group of CAD patients (n = 1164), and also carried out in vitro assays to test effects of the promoter variations on ABCA1 promoter transcriptional activity and effects of the coding variations on ABCA1 function in mediating cellular cholesterol efflux. 17412755 2007