Cholecystolithiasis
|
|
0.800 |
GeneticVariation
|
GWASDB |
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
|
17632509 |
2007 |
Cholelithiasis
|
|
0.800 |
GeneticVariation
|
GWASDB |
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
|
17632509 |
2007 |
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 |
Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.
|
30504769 |
2018 |
Biliary calculi
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies.
|
27094239 |
2016 |
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 |
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 |
|
|
|
Cholelithiasis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Our study showed strong association of D19H polymorphism with gallstone disease.
|
24498041 |
2014 |
Cholelithiasis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Carriers of the DH genotype and H allele of the ABCG8 D19H polymorphism harbor a higher risk for gallstone susceptibility in the northern Indian population.
|
21039838 |
2010 |
Cholelithiasis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Carriers of the CG genotype of ABCG8 rs118</span>87534 had higher risk of bi</span>liary 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 |
Cholecystolithiasis
|
|
0.800 |
GeneticVariation
|
BEFREE |
In retrospective controlled study, we determined D19H polymorphism of ABCG8 gene, genetic variation at Niemann-Pick C1-like 1 (NPC1L1) gene locus (rs41279633, rs17655652, rs2072183, rs217434 and rs2073548), and serum cholesterol, noncholesterol sterols and lipids in children affected by gallstones decades later (n = 66) and controls (n = 126).
|
29764733 |
2018 |
Cholecystolithiasis
|
|
0.800 |
GeneticVariation
|
BEFREE |
In the genotype model, the overall association between genotype with gallstone was significant for D19H (OR = 2.43, 95%CI: 2.23-2.64, P<0.001), and for Y54C (OR = 1.36, 95%CI: 1.01-1.83, P = 0.044), or T400K (OR = 1.17, 95%CI: 0.96-1.43.P = 0.110).
|
24498041 |
2014 |
Cholecystolithiasis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Carriers of the DH genotype and H allele of the ABCG8 D19H polymorphism harbor a higher risk for gallstone susceptibility in the northern Indian population.
|
21039838 |
2010 |
Cholecystolithiasis
|
|
0.800 |
GeneticVariation
|
BEFREE |
ABCG8-D19H is a predictor of gallstone recurrence, a major long term postoperative biliary complication.
|
22869156 |
2013 |
Cholecystolithiasis
|
|
0.800 |
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 |
Cholelithiasis
|
|
0.800 |
GeneticVariation
|
BEFREE |
Both gallstone disease and p.D19H of ABCG8 are associated with diminished cholesterol absorption.
|
23406058 |
2013 |
Cholelithiasis
|
|
0.800 |
GeneticVariation
|
BEFREE |
In retrospective controlled study, we determined D19H polymorphism of ABCG8 gene, genetic variation at Niemann-Pick C1-like 1 (NPC1L1) gene locus (rs41279633, rs17655652, rs2072183, rs217434 and rs2073548), and serum cholesterol, noncholesterol sterols and lipids in children affected by gallstones decades later (n = 66) and controls (n = 126).
|
29764733 |
2018 |
Cholelithiasis
|
|
0.800 |
GeneticVariation
|
BEFREE |
ABCG5 rs6756629 is in strong linkage disequilibrium with rs11887534 (D19H), a variant previously associated with gallstone disease risk in populations of European-descent.
|
24256507 |
2013 |
Cholecystolithiasis
|
|
0.800 |
GeneticVariation
|
BEFREE |
The fraction of all gallstones attributed to D19H was 11%.
|
21274884 |
2011 |
Cholecystolithiasis
|
|
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 |
Cholelithiasis
|
|
0.800 |
GeneticVariation
|
BEFREE |
In this general population cohort, ABCG8 D19H genotype was an important predictor of both symptomatic gallstone disease and biliary cancer.
|
21274884 |
2011 |
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 |
ABCG8-D19H is a predictor of gallstone recurrence, a major long term postoperative biliary complication.
|
22869156 |
2013 |