|
rs2853578
|
|
Tangier Disease
|
|
0.810 |
GeneticVariation
|
BEFREE |
Previously, we showed that an ABCA1 Q597R mutant (QR) identified in TD is retained in the endoplasmic reticulum.
|
18343215 |
2008 |
|
rs1883025
|
|
Age related macular degeneration
|
|
0.740 |
GeneticVariation
|
BEFREE |
We found no associations of <i>TLR3</i> (rs3775291), <i>CFD</i> (rs3826945), <i>FRK</i> (rs1999930) or <i>LIPC</i> (rs10468017) or <i>APOE</i> ε4 alleles with nvAMD or early AMD, nor between early AMD and rs1883025 or rs4711751.
|
29259020 |
2018 |
|
rs1883025
|
|
Age related macular degeneration
|
|
0.740 |
GeneticVariation
|
BEFREE |
The present meta-analysis indicated that the T allelic in rs1883025 variant was significantly associated with the risk of developing AMD, particularly at the early stage.
|
26608582 |
2016 |
|
rs1883025
|
|
Age related macular degeneration
|
|
0.740 |
GeneticVariation
|
BEFREE |
Rs10468017 in LIPC, rs12678919 near LPL and rs1883025 in ABCA1 were not found to be associated with advanced AMD (all p > 0.05).
|
24498989 |
2015 |
|
rs1883025
|
|
Age related macular degeneration
|
|
0.740 |
GeneticVariation
|
BEFREE |
After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medication use, cardiovascular disease and diabetes, and for all relevant genetic polymorphisms (ApoE2, ApoE4, CFH Y402H, ARMS2 A69S, LIPC rs10468017, LIPC rs493258, LPL rs12678919, ABCA1 rs1883025 and CETP rs3764261), higher HDL was significantly associated with an increased risk of early (OR = 2.45, 95%CI: 1.54-3.90; P = 0.0002) and any AMD (OR = 2.29, 95%CI: 1.46-3.59; P = 0.0003).
|
24608419 |
2014 |
|
rs137854496
|
|
Tangier Disease
|
|
0.720 |
GeneticVariation
|
BEFREE |
Depletion of sphingomyelin in stably transfected HEK293 cells expressing the Tangier disease W590S mutant ABCA1 isoform rescued the defect in PS exposure and restored cholesterol efflux to apoAI.
|
24220029 |
2013 |
|
rs137854496
|
|
Tangier Disease
|
|
0.720 |
GeneticVariation
|
BEFREE |
The Tangier disease mutation W590S, which resides in the extracellular domain and impairs apoA-I-dependent lipid efflux, greatly decreased NaTC-dependent cholesterol and phospholipid efflux.
|
19202195 |
2009 |
|
rs137854498
|
|
Tangier Disease
|
|
0.710 |
GeneticVariation
|
BEFREE |
We have documented here a clinical variant of TD in a Japanese patient who manifested corneal lipidosis and premature coronary artery disease as well as an almost complete absence of HDL-cholesterol, by identifying a novel homozygous ABCA1 mutation (R1680W).
|
12111371 |
2002 |
|
rs141021096
|
|
Tangier Disease
|
|
0.710 |
GeneticVariation
|
BEFREE |
Finally, apoA-I stimulates apoE secretion normally from macrophages of two unrelated subjects with genetically confirmed Tangier Disease (mutations C733R and c.5220-5222delTCT; and mutations A1046D and c.4629-4630insA), despite severely inhibited cholesterol efflux.
|
15066991 |
2004 |
|
rs2230806
|
|
Coronary heart disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
This study suggests that three SNPs rs2230806, rs4149313, and rs9282541 in ABCA1 gene are significantly associated with susceptibility to CHD; further mechanism should be performed to be applied to drug research and development.
|
31006134 |
2019 |
|
rs2230806
|
|
Coronary Artery Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
ABCA1 variants rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) are associated with susceptibility to coronary heart disease.
|
31006134 |
2019 |
|
rs2230806
|
|
Coronary heart disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
CONCLUSIONS This meta-analysis provides convincing evidence that polymorphism of ABCA1 R219K</span> is associated with susceptibility to CHD while the CRP +1059G/C polymorphism appears to have no correlation with susceptibility to CHD.
|
27560308 |
2016 |
|
rs2230806
|
|
Coronary Artery Disease
|
|
0.100 |
GeneticVariation
|
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 |
|
rs2230806
|
|
Coronary Artery Disease
|
|
0.100 |
GeneticVariation
|
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 |
|
rs2230806
|
|
Coronary heart disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
ABCA1 R219K polymorphism is associated with CHD susceptibility, and individuals with ABCA1 have a significantly higher risk of cancer particularly in Asians.
|
25104170 |
2015 |
|
rs2230806
|
|
Coronary Artery Disease
|
|
0.100 |
GeneticVariation
|
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 |
|
rs2230806
|
|
Coronary Artery Disease
|
|
0.100 |
GeneticVariation
|
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 |
|
rs2230806
|
|
Coronary heart disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, our results indicate that the ABCA1 R219K polymorphism is a protective factor of CHD in Asians, but not in Caucasians.
|
21643759 |
2012 |
|
rs2230806
|
|
Coronary Artery Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Quantitative assessment of the effect of ABCA1 R219K polymorphism on the risk of coronary heart disease.
|
21643759 |
2012 |
|
rs2230806
|
|
Coronary Artery Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
A significant association between ABCA1 R219K gene polymorphism and CAD was found in the Chinese population under the following genetic models: an allelic genetic model (OR 0.70, 95 % CI 0.62-0.78, P < 0.00001), a recessive genetic model (OR 0.51, 95 % CI 0.41-0.64, P < 0.00001), an additive genetic model (OR 0.816, 95 % CI 0780-0.855, P = 0), a dominant genetic model (OR 1.326, 95 % CI 1.232-1.427, P = 0), a homozygote genetic model (OR 0.640, 95 % CI 0.575-0.712, P = 0), and a heterozygote genetic model (OR 0.640, 95 % CI 0.575-0.712, P = 0).
|
23053993 |
2012 |
|
rs2230806
|
|
Coronary heart disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
ATP-binding cassette transporter A1 R219K polymorphism and coronary artery disease in Chinese population: a meta-analysis of 5,388 participants.
|
23053993 |
2012 |
|
rs2230806
|
|
Coronary Artery Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The synthesis of available evidence demonstrates that the ABCA1 R219K polymorphism is associated with a higher HDL-C level in Asians and a protective role for CAD risk both in Asians and Caucasians.
|
21310416 |
2011 |
|
rs2230806
|
|
Coronary heart disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, this meta-analysis suggests that K allele of ABCA1 R219K polymorphism is a protective factor associated with decreased CHD susceptibility, but these associations vary in different ethnic populations.
|
21300560 |
2011 |
|
rs2230806
|
|
Coronary heart disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Associations of the ATP-binding cassette transporter A1 R219K polymorphism with HDL-C level and coronary artery disease risk: a meta-analysis.
|
21310416 |
2011 |
|
rs2230806
|
|
Coronary heart disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The aim of this study was to evaluate for the first time the possible association between R219K gene polymorphism and coronary artery disease in an Iranian adult population.
|
20303467 |
2010 |