|
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 |
|
Cholelithiasis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Patients with Gaucher disease type 1 (GD1) show an altered lipid profile and a certain degree of insulin resistance, which might contribute to cholelithiasis (CL) and could possibly be associated with ABCG5/ABCG8 gene variants.
|
27981300 |
2016 |
|
Cholelithiasis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A genome-wide association study (GWAS) of 280 cases identified the hepatic cholesterol transporter ABCG8 as a locus associated with risk for gallstone disease, but findings have not been reported from any other GWAS of this phenotype.
|
27094239 |
2016 |
|
Cholelithiasis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Polymorphic variations in STSL have been linked to lipid levels and gallstone disease in whites.
|
24811295 |
2014 |
|
Cholelithiasis
|
0.200 |
GeneticVariation
|
disease |
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
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The aim of the study is to investigate whether ABCG8-D19H is associated with gallstone recurrence after cholecystectomy.
|
22869156 |
2013 |
|
Cholelithiasis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A lithogenic variant in the gene that encodes the hepatobiliary transporter ABCG8 has been identified as a risk factor for gallstone disease; this variant has been associated with altered cholesterol excretion and metabolism.
|
23583734 |
2013 |
|
Cholelithiasis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Both gallstone disease and p.D19H of ABCG8 are associated with diminished cholesterol absorption.
|
23406058 |
2013 |
|
Cholelithiasis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To test the hypothesis that ABCG8 (adenosine triphosphate-binding cassette transporter G8) Asp19His (D19H) genotype predicted risk of gallstones and biliary cancer in the general population, we studied 62,279 white individuals from The Copenhagen City Heart Study and The Copenhagen General Population Study, randomly selected to reflect the adult Danish population aged 20 to 80+ years.
|
21274884 |
2011 |
|
Cholelithiasis
|
0.200 |
GeneticVariation
|
disease |
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
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Hepatic cholesterol transporter ABCG8 polymorphisms in gallstone disease in an Indian population.
|
20594224 |
2010 |
|
Cholelithiasis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our study confirms the ABCG8 D19H genotype as a major risk factor for gallstone disease.
|
20497293 |
2010 |
|
Cholelithiasis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
At allele level also, the ABCG8 variant allele conferred an increased risk for gallstone susceptibility (P = 0.043; OR = 2.12; 95% CI = 1.2-4.3).
|
21039838 |
2010 |
|
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 |
|
Cholelithiasis
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Cholelithiasis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A common genetic polymorphism D19H of ABCG8 associated with gallstone disease may be causatively related to the genetic predisposition of GBC.
|
19018975 |
2009 |
|
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 |
|
Cholelithiasis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Carriers of ABCG5 604Q or ABCG8 D19H polymorphisms have an increased risk of gallstone disease independent of age, sex and body mass index.
|
18457353 |
2008 |
|
Cholelithiasis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Recently a large twin study confirmed a genetic predisposition to gallstones and a genome-wide association scan identified the hepatocanalicular cholesterol transporter ABCG8 as the common susceptibility factor for gallstone disease.
|
18408466 |
2008 |
|
Cholelithiasis
|
0.200 |
GeneticVariation
|
disease |
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
|
0.200 |
Biomarker
|
disease |
BEFREE |
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
|
17632509 |
2007 |
|
Cholelithiasis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Male carriers of the less frequent K allele of ABCG8 T400K had a 2.31-fold elevated risk [95% confidence interval (CI) 1.12 approximately 4.76, P=0.023] for gallstone disease compared to male with the common genotype after the adjustment for age, body mass index.
|
17612515 |
2007 |
|
Cholelithiasis
|
0.200 |
GeneticVariation
|
disease |
GWASDB |
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
|
17632509 |
2007 |
|
Cholelithiasis
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|