|
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We present the first case of sitosterolemia caused by double heterozygous mutations in adenosine triphosphate-binding cassette subfamily G members 5 and 8 (ABCG5 and ABCG8) genes.
|
30007774 |
2019 |
|
Malignant neoplasm of gallbladder
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
We observed that in our population the ABCG8 DH genotype frequency was significantly higher in GBC patients [P=0.011; odds ratio (OR)=1.79; 95% confidence interval (CI)=1.1-2.8].
|
19018975 |
2009 |
|
Gallbladder Carcinoma
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
We observed that in our population the ABCG8 DH genotype frequency was significantly higher in GBC patients [P=0.011; odds ratio (OR)=1.79; 95% confidence interval (CI)=1.1-2.8].
|
19018975 |
2009 |
|
Stage 0 Gallbladder Cancer AJCC v8
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
We observed that in our population the ABCG8 DH genotype frequency was significantly higher in GBC patients [P=0.011; odds ratio (OR)=1.79; 95% confidence interval (CI)=1.1-2.8].
|
19018975 |
2009 |
|
Stage IIA Gallbladder Cancer AJCC v8
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
We observed that in our population the ABCG8 DH genotype frequency was significantly higher in GBC patients [P=0.011; odds ratio (OR)=1.79; 95% confidence interval (CI)=1.1-2.8].
|
19018975 |
2009 |
|
Stage IIB Gallbladder Cancer AJCC v8
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
We observed that in our population the ABCG8 DH genotype frequency was significantly higher in GBC patients [P=0.011; odds ratio (OR)=1.79; 95% confidence interval (CI)=1.1-2.8].
|
19018975 |
2009 |
|
Stage III Gallbladder Cancer AJCC v8
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
We observed that in our population the ABCG8 DH genotype frequency was significantly higher in GBC patients [P=0.011; odds ratio (OR)=1.79; 95% confidence interval (CI)=1.1-2.8].
|
19018975 |
2009 |
|
Stage IV Gallbladder Cancer AJCC v8
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
We observed that in our population the ABCG8 DH genotype frequency was significantly higher in GBC patients [P=0.011; odds ratio (OR)=1.79; 95% confidence interval (CI)=1.1-2.8].
|
19018975 |
2009 |
|
Gall Bladder Diseases
|
0.010 |
GeneticVariation
|
group |
BEFREE |
We identify two new loci associated with GBD, GCKR rs1260326:T>C (P = 5.88 × 10(-7), ß = -0.146) and TTC39B rs686030:C>A (P = 6.95 x 10(-7), ß = 0.271) and detect four independent SNP effects in ABCG8 rs4953023:G>A (P=7.41 × 10(-47), ß = 0.734), ABCG8 rs4299376:G(>)T (P = 2.40 × 10(-18), ß = 0.278), ABCG5 rs6544718:T>C (P = 2.08 × 10(-14), ß = 0.044) and ABCG5 rs6720173:G>C (P = 3.81 × 10(-12), ß(=)0.262) in conditional analyses taking genotypes of rs4953023:G>A as a covariate.
|
25920552 |
2016 |
|
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We identified seven different mutations in two adjacent, oppositely oriented genes that encode new members of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family (six mutations in ABCG8 and one in ABCG5) in nine patients with sitosterolemia.
|
11099417 |
2000 |
|
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified seven different mutations in two adjacent, oppositely oriented genes that encode new members of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family (six mutations in ABCG8 and one in ABCG5) in nine patients with sitosterolemia.
|
11099417 |
2000 |
|
Sitosterolemia
|
1.000 |
Biomarker
|
disease |
CTD_human |
We identified seven different mutations in two adjacent, oppositely oriented genes that encode new members of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family (six mutations in ABCG8 and one in ABCG5) in nine patients with sitosterolemia.
|
11099417 |
2000 |
|
Sitosterolemia
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
We identified seven different mutations in two adjacent, oppositely oriented genes that encode new members of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family (six mutations in ABCG8 and one in ABCG5) in nine patients with sitosterolemia.
|
11099417 |
2000 |
|
Gerstmann-Straussler-Scheinker Disease
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We consistently replicated the association of ABCG8 gene with GSD (rs11887534, P = 3.24 × 10<sup>-8</sup>, OR = 1.74) and identified TRAF3 (rs12882491, P = 1.11 × 10<sup>-7</sup>, OR = 1.40) as a novel candidate gene for the disease in admixed Chilean Latinos.
|
30692554 |
2019 |
|
Massive Osteolyses
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We consistently replicated the association of ABCG8 gene with GSD (rs11887534, P = 3.24 × 10<sup>-8</sup>, OR = 1.74) and identified TRAF3 (rs12882491, P = 1.11 × 10<sup>-7</sup>, OR = 1.40) as a novel candidate gene for the disease in admixed Chilean Latinos.
|
30692554 |
2019 |
|
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We conclude that the majority of the molecular defects in G5 and G8 that cause sitosterolemia impair transport of the sterol transporter to the cell surface.
|
15054092 |
2004 |
|
Cholecystitis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We conclude that ABCG8 and TRAF3 genes are associated with GSD and GBC in admixed Latinos and that decreased TRAF3 levels could enhance gallbladder inflammation as is observed in GSD and GSD-associated GBC.
|
30692554 |
2019 |
|
Hypercholesterolemia, Familial
|
0.320 |
Biomarker
|
disease |
BEFREE |
We also identified 18 individuals with deleterious mutations in an FH gene andABCG5orABCG8(4%,ABCG5/ABCG8-oligogenic FH).
|
31327807 |
2019 |
|
Hyperlipoproteinemia Type IIa
|
0.020 |
Biomarker
|
disease |
BEFREE |
We also identified 18 individuals with deleterious mutations in an FH gene andABCG5orABCG8(4%,ABCG5/ABCG8-oligogenic FH).
|
31327807 |
2019 |
|
Hypercholesterolemia
|
0.470 |
GeneticVariation
|
disease |
LHGDN |
Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have been found to be associated with several facets of cholesterol metabolism, including baseline cholesterol level, cholesterol kinetics, individual responsiveness of plasma cholesterol to dietary and pharmaceutical interventions for hypercholesterolemia, and increased risk of gallstones.
|
18522623 |
2008 |
|
Cholelithiasis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have been found to be associated with several facets of cholesterol metabolism, including baseline cholesterol level, cholesterol kinetics, individual responsiveness of plasma cholesterol to dietary and pharmaceutical interventions for hypercholesterolemia, and increased risk of gallstones.
|
18522623 |
2008 |
|
Cholecystolithiasis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have been found to be associated with several facets of cholesterol metabolism, including baseline cholesterol level, cholesterol kinetics, individual responsiveness of plasma cholesterol to dietary and pharmaceutical interventions for hypercholesterolemia, and increased risk of gallstones.
|
18522623 |
2008 |
|
Cholelithiasis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Variants of ABCG8 and UGT1A1 are the 2 major risk factors for overall gallstone disease, they contribute a population attributable risk of 21.2% among men.
|
20837016 |
2010 |
|
Biliary calculi
|
0.420 |
GeneticVariation
|
phenotype |
GWASCAT |
Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry.
|
30692554 |
2019 |
|
Cholelithiasis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry.
|
30692554 |
2019 |