|
Bile duct carcinoma
|
|
0.010 |
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 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 |
|
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 |
|
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 |
|
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 |
|
C-reactive protein measurement
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
|
27286809 |
2016 |
|
Cardiovascular Diseases
|
|
0.020 |
GeneticVariation
|
BEFREE |
In a Cox proportional hazard regression model adjusted for relevant cardiovascular risk factors, the D19H polymorphism was not associated with total CVD risk (p=0.2), but there was evidence of an association with higher risk of CHD (RR 1.42, CI 1.04-1.95; p=0.03).
|
18977479 |
2009 |
|
Cardiovascular Diseases
|
|
0.020 |
GeneticVariation
|
BEFREE |
It is supposed that the coexistence of higher insulin resistance and hypercholesterolemia for carriers of the D19H polymorphism may result in a greater risk of cardiovascular disease.
|
18581044 |
2008 |
|
Cholangiocarcinoma
|
|
0.010 |
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Cholecystolithiasis
|
|
0.800 |
GeneticVariation
|
BEFREE |
D19H was found to be significantly associated with gallstones (odds ratio [OR] = 2.9, P = 0.0220, 95% confidence interval [CI]:1.22-6.89), particularly in the overweight cohort (OR = 3.2, P = 0.0430, 95% CI:1.07-9.26).
|
23406058 |
2013 |
|
Cholecystolithiasis
|
|
0.800 |
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 |
|
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 |