|
Cholecystolithiasis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Consistent with the mouse model, heterozygosity for the lithogenic ABCG8 allele was associated with gallstones in humans; 21.4% of gallstone patients carried the heterozygous D19H genotype, compared with 8.6% of controls (OR = 2.954; P = 0.026).
|
17626266 |
2007 |
|
Cholelithiasis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Consistent with the mouse model, heterozygosity for the lithogenic ABCG8 allele was associated with gallstones in humans; 21.4% of gallstone patients carried the heterozygous D19H genotype, compared with 8.6% of controls (OR = 2.954; P = 0.026).
|
17626266 |
2007 |
|
Cholelithiasis
|
|
0.800 |
GeneticVariation
|
BEFREE |
To investigate a possible association between transporter gene polymorphism and gallstone formation, we examined five common polymorphisms in the ABCG5 (Q604E) and ABCG8 (D19H, Y54C, T400K, A632V) genes in patients with gallstone disease (GS).
|
17612515 |
2007 |
|
Biliary calculi
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry.
|
30692554 |
2019 |
|
Biliary calculi
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.
|
30504769 |
2018 |
|
Low density lipoprotein cholesterol measurement
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
|
27286809 |
2016 |
|
Biliary calculi
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies.
|
27094239 |
2016 |
|
C-reactive protein measurement
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
|
27286809 |
2016 |
|
Biliary calculi
|
|
0.700 |
GeneticVariation
|
GWASCAT |
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
|
17632509 |
2007 |
|
GALLBLADDER DISEASE 4
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Cholesterol gallstones
|
|
0.030 |
GeneticVariation
|
BEFREE |
Mutational analysis of ABCB4, screening for copy number variations by multiplex ligation-dependent probe amplification, genotyping for low expression allele c.1331T>C of ABCB11 and genotyping for variation c.55G>C in ABCG8 previously associated with cholesterol gallstones in adults was performed in 35 pediatric subjects with idiopathic gallstones who fulfilled the clinical criteria for low phospholipid-associated cholelithiasis syndrome (LPAC, OMIM #600803) and in 5 young females with suspected LPAC and their families (5 probands, 15 additional family members).
|
24914347 |
2014 |
|
Cholesterol gallstones
|
|
0.030 |
GeneticVariation
|
BEFREE |
In our study we investigated the contribution of heterozygosity for common variations considered either potentially pathogenic or susceptibility alleles for cholesterol cholelithiasis in adults (c.523A>G (p.Thr175Ala) and c.1954A>G (p.Arg652Gly) in ABCB4, c.1331T>C (p.Val444Ala) in ABCB11 and c.55 G>C (p.Asp19His) in ABCG8) to the aetiology of paediatric idiopathic gallstone disease.
|
20163776 |
2010 |
|
Cholesterol gallstones
|
|
0.030 |
GeneticVariation
|
BEFREE |
Studies have identified single nucleotide polymorphisms (SNP) D19H and T400K in the cholesterol transporter gene ATP-binding cassette, subfamily G, member 8 (ABCG8) in patients with cholesterol gallstones.
|
20594224 |
2010 |
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.020 |
GeneticVariation
|
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
|
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 |
|
Malignant neoplasm of gallbladder
|
|
0.020 |
GeneticVariation
|
BEFREE |
Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype.
|
21062971 |
2011 |
|
Biliary Tract Cancer
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our findings suggest that ABCG8 rs11887534, identified as a gallstone risk single-nucleotide polymorphism by whole genome scan, is also associated with an increased risk of biliary tract cancer.
|
21062971 |
2011 |
|
Gallbladder Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype.
|
21062971 |
2011 |
|
Stage IIB Gallbladder Cancer AJCC v8
|
|
0.020 |
GeneticVariation
|
BEFREE |
Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype.
|
21062971 |
2011 |
|
Biliary Tract Cancer
|
|
0.020 |
GeneticVariation
|
BEFREE |
In this general population cohort, ABCG8 D19H genotype was an important predictor of both symptomatic gallstone disease and biliary cancer.
|
21274884 |
2011 |
|
Stage 0 Gallbladder Cancer AJCC v8
|
|
0.020 |
GeneticVariation
|
BEFREE |
Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype.
|
21062971 |
2011 |
|
Stage IIA Gallbladder Cancer AJCC v8
|
|
0.020 |
GeneticVariation
|
BEFREE |
Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype.
|
21062971 |
2011 |
|
Stage III Gallbladder Cancer AJCC v8
|
|
0.020 |
GeneticVariation
|
BEFREE |
Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype.
|
21062971 |
2011 |
|
Stage IV Gallbladder Cancer AJCC v8
|
|
0.020 |
GeneticVariation
|
BEFREE |
Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype.
|
21062971 |
2011 |
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
SNP D19H, but not SNP T400K, in the ABCG8 gene is significantly associated with GSD in an Indian population.
|
20594224 |
2010 |