|
Cholestasis of pregnancy
|
|
0.050 |
GeneticVariation
|
BEFREE |
One mutation (E186G) had been described in one BRIC-2 case; the second mutation (V444A) is more frequent and has been linked to intrahepatic cholestasis of pregnancy.
|
16394881 |
2006 |
|
Cholestasis
|
|
0.030 |
GeneticVariation
|
BEFREE |
Furthermore, a polymorphism in exon 13 of ABCB11 (V444A), which is associated with decreased hepatic BSEP expression was significantly more frequent in drug-induced cholestasis patients than in drug-induced hepatocellular injury patients and healthy controls (76 versus 50 and 59% in drug-induced cholestasis patients, drug-induced hepatocellular injury patients and healthy controls, respectively; P<0.05).
|
17264802 |
2007 |
|
Cholestasis of pregnancy
|
|
0.050 |
GeneticVariation
|
BEFREE |
Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump.
|
18176959 |
2008 |
|
Cholestasis
|
|
0.030 |
GeneticVariation
|
BEFREE |
Our data support a role for the ABCB11 1331T>C polymorphism as a susceptibility factor for the development of estrogen-induced cholestasis, whereas no such association was found for ABCC2.
|
18176959 |
2008 |
|
Cholestasis of pregnancy
|
|
0.050 |
GeneticVariation
|
BEFREE |
The V444A polymorphism is a significant risk factor for ICP in this population.
|
18987030 |
2009 |
|
Cholesterol gallstones
|
|
0.020 |
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
|
|
0.020 |
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 |
|
Cholestasis
|
|
0.030 |
GeneticVariation
|
BEFREE |
A common variant of BSEP (p.V444A) is now a well-established susceptibility factor for acquired cholestasis and recent evidence suggests that the same variant also influences the therapeutic response and disease progression of viral hepatitis C. Studies in large independent cohorts are now needed to confirm the relevance of p.V444A.
|
21320040 |
2011 |
|
Hepatitis C
|
|
0.030 |
GeneticVariation
|
BEFREE |
A total of 206 subjects with chronic HCV infection were included for ABCB11 (ATP-binding cassette, subfamily B, member II) 1331T>C and NR1H4 (nuclear receptor) -1G>T genotyping, 178 of which were analysed for fibrosis stage.
|
20883210 |
2011 |
|
Cirrhosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
In the present issue of Clinical Science, Iwata and co-workers report an association between a variant of a gene regulating bile acid levels, ABCB11 1331T>C (where ABCB11 encodes ATP-binding cassette, subfamily B, member 11), and the progression to cirrhosis in patients with HCV, but not in fatty liver patients.
|
21087209 |
2011 |
|
Hepatitis C, Chronic
|
|
0.020 |
GeneticVariation
|
BEFREE |
On the other hand, the common BSEP polymorphism V444A (c.1331T>C; allele frequency 65%) emerged as an independent predictor of the success rate in patients with chronic hepatitis C treated with pegylated interferon/ribavirin.
|
21691112 |
2011 |
|
Liver Cirrhosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
In the present issue of Clinical Science, Iwata and co-workers report an association between a variant of a gene regulating bile acid levels, ABCB11 1331T>C (where ABCB11 encodes ATP-binding cassette, subfamily B, member 11), and the progression to cirrhosis in patients with HCV, but not in fatty liver patients.
|
21087209 |
2011 |
|
Cholangiocarcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
There was a trend towards significant association of V444A with CC.
|
21691113 |
2011 |
|
Cholestasis of pregnancy
|
|
0.050 |
GeneticVariation
|
BEFREE |
A frequent variant in the coding region, c.1331 T>C, leading to the amino acid exchange p.V444A, has been associated with altered serum bile salt levels in healthy individuals and predisposes homozygous carriers of the [C] allele for obstetric cholestasis.
|
22681771 |
2012 |
|
Cirrhosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Therefore, 511 alcoholic patients (131 with cirrhosis and 380 without cirrhosis) underwent ABCB11 genotyping (rs2287622).
|
22522591 |
2012 |
|
Liver Cirrhosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Therefore, 511 alcoholic patients (131 with cirrhosis and 380 without cirrhosis) underwent ABCB11 genotyping (rs2287622).
|
22522591 |
2012 |
|
Drug-Induced Liver Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
Patients carrying the C allele in the ABCB11 1331T>C polymorphism are at increased risk of developing hepatocellular type of DILI, when taking drugs containing a carbocyclic system with aromatic rings.
|
23701583 |
2013 |
|
Cholesterol gallstones
|
|
0.020 |
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
|
|
0.020 |
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
|
|
0.010 |
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 |
|
Low phospholipid-associated cholelithiasis
|
|
0.010 |
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 |
|
Serum total cholesterol measurement
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.
|
28334899 |
2017 |
|
Hepatitis C
|
|
0.030 |
GeneticVariation
|
BEFREE |
European researchers have underscored associations between single nucleotide polymorphism (SNP) rs2287622 of the hepatobiliary bile salt export pump (BSEP) gene and the risk of hepatitis C virus (HCV) infection.
|
28292275 |
2017 |
|
Hepatitis C, Chronic
|
|
0.020 |
GeneticVariation
|
BEFREE |
A preliminary investigation on single nucleotide polymorphism rs2287622 of bile salt export pump gene in patients with chronic hepatitis C virus infection in Hunan, China.
|
28292275 |
2017 |
|
Virus Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
A preliminary investigation on single nucleotide polymorphism rs2287622 of bile salt export pump gene in patients with chronic hepatitis C virus infection in Hunan, China.
|
28292275 |
2017 |