rs2287622, ABCB11

N. diseases: 16
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Serum total cholesterol measurement
CUI: C1445957
Disease: 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
Cholestasis of pregnancy
CUI: C0268318
Disease: Cholestasis of pregnancy
0.050 GeneticVariation BEFREE Our current meta-analysis indicated that BSEP rs2287622 polymorphism could increase the susceptibility of ICP in Asians and in general populations, while rs473351, D482G, and rs853782 polymorphisms were not obviously associated with ICP risk, but it needs further larger study with ethnicity and various etiologies. 30614300 2019
Cholestasis of pregnancy
CUI: C0268318
Disease: 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
Cholestasis of pregnancy
CUI: C0268318
Disease: Cholestasis of pregnancy
0.050 GeneticVariation BEFREE The V444A polymorphism is a significant risk factor for ICP in this population. 18987030 2009
Cholestasis of pregnancy
CUI: C0268318
Disease: 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 of pregnancy
CUI: C0268318
Disease: 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
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.030 GeneticVariation BEFREE Fasting bile acid levels, hepatitis C virus (HCV) genotyping, and ABCB11 1331T > C gene polymorphism were assessed. 29755014 2018
Hepatitis C
CUI: C0019196
Disease: 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
Cholestasis
CUI: C0008370
Disease: 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
CUI: C0019196
Disease: 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
Cholestasis
CUI: C0008370
Disease: 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
CUI: C0008370
Disease: 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
Drug-Induced Liver Disease
CUI: C0860207
Disease: Drug-Induced Liver Disease
0.020 GeneticVariation BEFREE A common variant (rs2287622; p.V444A) in the gene encoding BSEP has been associated with an increased risk of cholestatic DILI. 30608704 2019
Hepatitis C, Chronic
CUI: C0524910
Disease: 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
Cholesterol gallstones
CUI: C0856727
Disease: 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
CUI: C0008350
Disease: 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
Drug-Induced Liver Disease
CUI: C0860207
Disease: 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
Cirrhosis
CUI: C1623038
Disease: Cirrhosis
0.020 GeneticVariation BEFREE Therefore, 511 alcoholic patients (131 with cirrhosis and 380 without cirrhosis) underwent ABCB11 genotyping (rs2287622). 22522591 2012
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.020 GeneticVariation BEFREE Therefore, 511 alcoholic patients (131 with cirrhosis and 380 without cirrhosis) underwent ABCB11 genotyping (rs2287622). 22522591 2012
Cirrhosis
CUI: C1623038
Disease: 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
CUI: C0524910
Disease: 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
CUI: C0023890
Disease: 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
Cholesterol gallstones
CUI: C0856727
Disease: 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
CUI: C0008350
Disease: 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
Pseudohyperkalemia Cardiff
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
0.010 GeneticVariation BEFREE We aimed to investigate the potential role of plasma bile acid levels and ABCB11 1331T > C (V444A, rs2287622) (ATP-binding cassette subfamily B, member 11) gene polymorphism in fibrosis prediction in CHC genotype 4 patients. 29755014 2018