|
Cholelithiasis
|
|
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 |
A common genetic polymorphism D19H of ABCG8 associated with gallstone disease may be causatively related to the genetic predisposition of GBC.
|
19018975 |
2009 |
|
Cholelithiasis
|
|
0.800 |
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 |
|
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 |
|
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 |
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
|
|
0.800 |
GeneticVariation
|
BEFREE |
Among individuals of African American and Hispanic American ancestry, rs11887534 and rs4245791 were associated positively with gallstone disease risk, whereas the association for the rs1260326 variant was inverse.
|
27094239 |
2016 |
|
Cholelithiasis
|
|
0.800 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
BEFREE |
Our study confirms the ABCG8 D19H genotype as a major risk factor for gallstone disease.
|
20497293 |
2010 |
|
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 |
|
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 |
|
Coronary heart disease
|
|
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 |
|
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 |
|
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 |
|
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 IV Gallbladder Cancer AJCC v8
|
|
0.020 |
GeneticVariation
|
BEFREE |
The results suggest that the DH genotype and the H allele of the ABCG8 D19H polymorphism are associated with GBC susceptibility.
|
19018975 |
2009 |
|
Hypercholesterolemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
These results suggest that, in patients with hypercholesterolemia, the ABCG8 D19H variant is associated with greater LDLC-lowering response to atorvastatin therapy.
|
14703505 |
2004 |
|
Gallbladder Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
The results suggest that the DH genotype and the H allele of the ABCG8 D19H polymorphism are associated with GBC susceptibility.
|
19018975 |
2009 |
|
Stage IIB Gallbladder Cancer AJCC v8
|
|
0.020 |
GeneticVariation
|
BEFREE |
The results suggest that the DH genotype and the H allele of the ABCG8 D19H polymorphism are associated with GBC susceptibility.
|
19018975 |
2009 |
|
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 |
|
Coronary heart disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
Effect of genetic variant (rs11887534) in ABCG8 gene in coronary artery disease and response to atorvastatin therapy.
|
20592455 |
2010 |
|
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 |