|
rs57137919
|
|
Polypoidal choroidal vasculopathy
|
|
0.030 |
GeneticVariation
|
BEFREE |
Among them, CETP (rs3764261/rs2303790) and ABCG1 (rs57137919) were the major susceptibility genes for PCV in Asian population and ABCG1 (rs57137919) showed allelic diversity between PCV and AMD.
|
29977615 |
2018 |
|
rs57137919
|
|
Polypoidal choroidal vasculopathy
|
|
0.030 |
GeneticVariation
|
BEFREE |
In the Hong Kong cohort, SNP rs57137919 was associated with PCV (odds ratio [OR] = 1.35).
|
27787563 |
2016 |
|
rs57137919
|
|
Polypoidal choroidal vasculopathy
|
|
0.030 |
GeneticVariation
|
BEFREE |
A borderline association was detected between the ATP-binding cassette, subfamily G, member 1 (ABCG1) gene SNP rs57137919 and PCV (P = 0.03).
|
24393350 |
2014 |
|
rs57137919
|
|
Coronary Artery Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our previous study showed that single nucleotide polymorphism rs57137919 (-367G>A) in the ABCG1 promoter region was associated with reduced risk for atherosclerotic coronary artery disease (CAD).
|
24972087 |
2014 |
|
rs57137919
|
|
Coronary Artery Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
The SNP rs57137919 in the ABCG1 promoter region is functionally associated with a reduced risk of CAD in a Chinese Han population.
|
21722899 |
2011 |
|
rs1294780786
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA damage, the double-strand break repair pathway: X-ray cross-complementing group 3 (XRCC3) codon 241 Thr/Met, Nijmegen breakage syndrome 1 (NBS1) codon 185 Glu/Gln, X-ray cross-complementing group 2 (XRCC2) codon 188 Arg/His, and breast cancer susceptibility gene 2 (BRCH2) codon 372 Asn/His.
|
16214912 |
2005 |
|
rs1294780786
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA damage, the double-strand break repair pathway: X-ray cross-complementing group 3 (XRCC3) codon 241 Thr/Met, Nijmegen breakage syndrome 1 (NBS1) codon 185 Glu/Gln, X-ray cross-complementing group 2 (XRCC2) codon 188 Arg/His, and breast cancer susceptibility gene 2 (BRCH2) codon 372 Asn/His.
|
16214912 |
2005 |
|
rs1378577
|
|
Hypertriglyceridemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
In a subgroup with hypertriglyceridemia (144 patients and 115 controls), the frequency of rs1378577 GG genotype and G allele as well as rs57137919 AA genotype was lower in the patient group compared with that in the control group (P = .018, P = .035, and P = .023, respectively).
|
25890853 |
2015 |
|
rs1378577
|
|
Ischemic stroke
|
|
0.010 |
GeneticVariation
|
BEFREE |
Logistic regression analysis revealed a reduced risk of ischemic stroke in a recessive model for both rs1378577 and rs57137919.
|
25890853 |
2015 |
|
rs1445295054
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA damage, the double-strand break repair pathway: X-ray cross-complementing group 3 (XRCC3) codon 241 Thr/Met, Nijmegen breakage syndrome 1 (NBS1) codon 185 Glu/Gln, X-ray cross-complementing group 2 (XRCC2) codon 188 Arg/His, and breast cancer susceptibility gene 2 (BRCH2) codon 372 Asn/His.
|
16214912 |
2005 |
|
rs1445295054
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
Genotyping was conducted for polymorphisms in four genes involved in repair of radiation-induced DNA damage, the double-strand break repair pathway: X-ray cross-complementing group 3 (XRCC3) codon 241 Thr/Met, Nijmegen breakage syndrome 1 (NBS1) codon 185 Glu/Gln, X-ray cross-complementing group 2 (XRCC2) codon 188 Arg/His, and breast cancer susceptibility gene 2 (BRCH2) codon 372 Asn/His.
|
16214912 |
2005 |
|
rs182694
|
|
Schizophrenia
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this study, we investigated whether 9 SNPs in ABCB1 (rs6946119, rs28401781, rs4148739, and rs3747802), ABCB6 (rs1109866, rs1109867, rs3731885, and rs3755047), and ABCG1 (rs182694) contribute to the risk of SCZ in a Han Chinese population.
|
31189171 |
2019 |
|
rs2234714
|
|
Coronary Artery Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The ABCG1 -768G>A polymorphism (rs2234714) showed an association with CAD in a recessive model (adjusted OR = 0.64, p = 0.015), but did not demonstrate a functional influence on reporter gene expression in the luciferase reporter assay.
|
21722899 |
2011 |
|
rs225396
|
|
Polypoidal choroidal vasculopathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this study, we have newly identified a haplotype-tagging SNP, rs225396, in ABCG1 to be associated with PCV and nAMD in Chinese and Japanese cohorts.
|
27787563 |
2016 |
|
rs225396
|
|
Exudative age-related macular degeneration
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this study, we have newly identified a haplotype-tagging SNP, rs225396, in ABCG1 to be associated with PCV and nAMD in Chinese and Japanese cohorts.
|
27787563 |
2016 |
|
rs492338
|
|
Peripheral Nervous System Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
One intronic SNP in ABCG1 (rs492338) surpassed the exploratory significance threshold for an association with PIPN in the Caucasian cohort (p = 0.0008) but not in the non-Caucasian replication group (p = 0.54).
|
24706167 |
2014 |
|
rs492338
|
|
Peripheral Neuropathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
One intronic SNP in ABCG1 (rs492338) surpassed the exploratory significance threshold for an association with PIPN in the Caucasian cohort (p = 0.0008) but not in the non-Caucasian replication group (p = 0.54).
|
24706167 |
2014 |
|
rs57137919
|
|
Age related macular degeneration
|
|
0.010 |
GeneticVariation
|
BEFREE |
Among them, CETP (rs3764261/rs2303790) and ABCG1 (rs57137919) were the major susceptibility genes for PCV in Asian population and ABCG1 (rs57137919) showed allelic diversity between PCV and AMD.
|
29977615 |
2018 |
|
rs57137919
|
|
Exudative age-related macular degeneration
|
|
0.010 |
GeneticVariation
|
BEFREE |
A total of 12 haplotype-tagging single-nucleotide polymorphisms (SNPs) and the SNP rs57137919 in the ABCG1 gene were first analyzed in a Hong Kong Chinese cohort of 235 nAMD, 236 PCV, and 365 controls, using TaqMan genotyping assays.
|
27787563 |
2016 |
|
rs57137919
|
|
Ischemic stroke
|
|
0.010 |
GeneticVariation
|
BEFREE |
Logistic regression analysis revealed a reduced risk of ischemic stroke in a recessive model for both rs1378577 and rs57137919.
|
25890853 |
2015 |
|
rs57137919
|
|
Hypertriglyceridemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
In a subgroup with hypertriglyceridemia (144 patients and 115 controls), the frequency of rs1378577 GG genotype and G allele as well as rs57137919 AA genotype was lower in the patient group compared with that in the control group (P = .018, P = .035, and P = .023, respectively).
|
25890853 |
2015 |
|
rs57137919
|
|
Arteriosclerosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
These findings demonstrated that the ABCG1 promoter rs57137919G>A variant had an allele-specific effect on ABCG1 expression and was associated with an increased apoptosis in cholesterol-loaded macrophages, providing functional evidence to explain the reduced risk for atherosclerosis in subjects with the ABCG1 promoter rs57137919A allele as reported in our previous study.
|
24972087 |
2014 |
|
rs57137919
|
|
Atherosclerosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
These findings demonstrated that the ABCG1 promoter rs57137919G>A variant had an allele-specific effect on ABCG1 expression and was associated with an increased apoptosis in cholesterol-loaded macrophages, providing functional evidence to explain the reduced risk for atherosclerosis in subjects with the ABCG1 promoter rs57137919A allele as reported in our previous study.
|
24972087 |
2014 |
|
rs57137919
|
|
Myocardial Infarction
|
|
0.010 |
GeneticVariation
|
BEFREE |
The human ABCG1 -367G>A polymorphism (rs57137919) showed a significantly decreased risk for CAD and myocardial infarction (MI) in a dominant model (adjusted OR = 0.73, p = 0.033 for CAD, and adjusted OR = 0.65, p = 0.014 for MI, respectively).
|
21722899 |
2011 |
|
rs750249283
|
|
Myocardial Infarction
|
|
0.010 |
GeneticVariation
|
BEFREE |
Next, we genotyped 10 237 individuals from the Copenhagen City Heart Study for the identified variants and determined the effect on lipid and lipoprotein levels and on risk of myocardial infarction (MI) and ischemic heart disease (IHD). g.-376C>T, g.-311T>A, and Ser630Leu predicted risk of MI in the Copenhagen City Heart Study, with hazard ratios of 2.2 (95% confidence interval: 1.2-4.3), 1.7 (1.0-2.9), and 7.5 (1.9-30), respectively.
|
22155456 |
2012 |