rs2066714, ABCA1

N. diseases: 13
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
High density lipoprotein measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
Serum HDL cholesterol measurement
CUI: C0428472
Disease: Serum HDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.020 GeneticVariation BEFREE In summary, there was no significant association detected between ABCA1 R219K, I883M and R1587K polymorphisms and risk for AD. 22982414 2012
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.020 GeneticVariation BEFREE To evaluate the relationship between ABCA1 genetic variants and Alzheimer's disease (AD), independently or in concert with the APOE epsilon4 allele, we examined three ABCA1 polymorphisms located in the coding region (R219K, I883M, and R1587K) and two ABCA1 polymorphisms in the promoter region (C-14T and C-477T) in a group of 372 Spanish AD patients and 440 controls. 17510946 2007
Hyperlipidemia
CUI: C0020473
Disease: Hyperlipidemia
0.010 GeneticVariation BEFREE We conducted a cross-sectional study to investigate the effects of the adenosine triphosphate-binding cassette transporter 1 (ABCA1) I883M and lipoprotein lipase (LPL) HindIII polymorphisms on lipid levels in patients with hyperlipidemia.A total of 533 patients were enrolled. 28891316 2018
Obesity
CUI: C0028754
Disease: Obesity
0.010 GeneticVariation BEFREE The study results suggest that R219K and I883M SNPs of the ABCA1 gene may play a role in susceptibility to obesity in our Egyptian population; the former increases susceptibility and phenotype severity, and the latter is protective. 26243156 2015
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
0.010 GeneticVariation BEFREE The present meta-analysis suggested that the ABCA1 R219K and M883I polymorphisms were associated with the susceptibility to AS. 24466114 2014
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
0.010 GeneticVariation BEFREE The present meta-analysis suggested that the ABCA1 R219K and M883I polymorphisms were associated with the susceptibility to AS. 24466114 2014
Myocardial Ischemia
CUI: C0151744
Disease: Myocardial Ischemia
0.010 GeneticVariation BEFREE A stepwise regression approach identified V771M, I883M, and E1172D as the most important predictors of IHD and additive effects on IHD risk were present for V771M/I883M and I883M/E1172D pairs. 17951323 2008
Carotid Atherosclerosis
CUI: C0577631
Disease: Carotid Atherosclerosis
0.010 GeneticVariation BEFREE The I883M variant showed no effect on plasma lipids or carotid atherosclerosis. 18803945 2008
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE The aim of the present study was to investigate the relationship between R219K, M883I, and R1587K variants of the ATP-binding cassette transporter subfamily A number 1 (ABCA1) gene and response to rosiglitazone treatment in newly diagnosed patients with type 2 diabetes. 18215356 2008
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.010 GeneticVariation BEFREE We have analysed three polymorphisms of the ABCA1 gene (-477C/T, R219 K, and I883M) in a cohort of young male survivors of myocardial infarction in order to know their influence in long-term prognosis. 16313984 2006
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.010 GeneticVariation BEFREE We investigated 244 unrelated, consecutively enrolled patients with ischemic stroke, 150 patients with coronary heart disease (CHD) and 193 blood donors for allele frequencies (AFs) of three common ABCA1 polymorphisms (R219K, V771M and I883M). 16446539 2006
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.010 GeneticVariation BEFREE While genotype-phenotype associations were not reproduced across populations and loci, V825I and M883I were clearly associated with CAD status in Malays with no effects on HDL-C or apoA1. 12709788 2003