|
Cholestasis of pregnancy
|
0.400 |
GeneticVariation
|
disease |
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
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This study has expanded known mutations in ABCB4 and ABCB11 and identified roles in ICP for mutations in ATP8B1 and ABCC2.
|
28924228 |
2017 |
|
Cholestasis of pregnancy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A common BSEP polymorphism as well as a rare MDR3 mutation may underlie the development of ICP in our patient.
|
27936482 |
2016 |
|
Cholestasis of pregnancy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations of canalicular transporters occur in a subset of ICP cases and a population susceptibility allele (p.444A) has been identified in ABCB11.
|
24366234 |
2014 |
|
Cholestasis of pregnancy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in BSEP are associated with cholestatic diseases such as progressive familial intrahepatic cholestasis type 2 (PFIC2), benign recurrent intrahepatic cholestasis type 2 (BRIC2), drug-induced cholestasis, and intrahepatic cholestasis of pregnancy.
|
23685087 |
2014 |
|
Cholestasis of pregnancy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To date, a number of studies have identified polymorphisms encoding biliary canalicular transporters, including those encoded by ABCB4 and ABCB11, which are associated with intrahepatic cholestasis of pregnancy.
|
24402531 |
2014 |
|
Cholestasis of pregnancy
|
0.400 |
SusceptibilityMutation
|
disease |
ORPHANET |
Our data support the hypothesis of a significant involvement of ABCB4 mutations in the onset of ICP, but also confirm an important role for ABCB11 mutations in increasing the susceptibility to cholestasis of pregnancy.
|
23022423 |
2013 |
|
Cholestasis of pregnancy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our data support the hypothesis of a significant involvement of ABCB4 mutations in the onset of ICP, but also confirm an important role for ABCB11 mutations in increasing the susceptibility to cholestasis of pregnancy.
|
23022423 |
2013 |
|
Cholestasis of pregnancy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report on NR1H4 analysis in eight patients with progressive familial intrahepatic cholestasis (PFIC) and in eight women with either ICP and/or drug-induced cholestasis (DIC) in whom no disease causing mutation in ATP8B1, ABCB11 and/or ABCB4 were found.
|
23142591 |
2012 |
|
Cholestasis of pregnancy
|
0.400 |
Biomarker
|
disease |
BEFREE |
In humans, BSEP deficiency results in several different genetic forms of cholestasis, which include progressive familial intrahepatic cholestasis type 2 (PFIC2), benign recurrent intrahepatic cholestasis type 2 (BRIC2), as well as other acquired forms of cholestasis such as drug-induced cholestasis (DIC) and intrahepatic cholestasis of pregnancy (ICP).
|
20422495 |
2010 |
|
Cholestasis of pregnancy
|
0.400 |
Biomarker
|
disease |
BEFREE |
In addition, genetic variants (as well as mutants) of the genes coding for the phosphatidylcholine translocator MDR3 and BSEP and for the farnesoid X receptor, which is critical in the transcriptional activation of MDR3 ( ABCB4) and BSEP ( ABCB11) have been associated with intrahepatic cholestasis of pregnancy.
|
20422497 |
2010 |
|
Cholestasis of pregnancy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
ABCB11 variation in ICP was investigated by screening for five mutant alleles (E297G, D482G, N591S, D676Y and G855R) and the rs2287622" genes_norm="8647">V444A polymorphism (c.1331T>C, rs2287622) in two ICP cohorts (n = 333 UK, n = 158 continental Europe), and controls (n = 261) for rs2287622" genes_norm="8647">V444A.
|
18987030 |
2009 |
|
Cholestasis of pregnancy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This case illustrates an unusual presentation of very severe intrahepatic cholestasis of pregnancy in a homozygous patient carrying bile salt export pump mutation.
|
19622974 |
2009 |
|
Cholestasis of pregnancy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Real time reverse transcriptase polymerase chain reaction was applied for the mRNA expression measurement of 8 bile acid transport correlative proteins, organic anion transporting polypeptide (OATP)1A2, OATP1B1, multidrug resistance protein (MRP)1, MRP2, anion exchanger (AE)2, bile salt export pump (BSEP), multidrug resistance 3, and familial intrahepatic cholestasis (FIC)1, in normal human placentas (n=20) and those with ICP (n=20).
|
19882051 |
2009 |
|
Cholestasis of pregnancy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We would like to add some comments on a paper recently published concerning the role of ABCB11 and ABCC2 polymorphisms in both ICP and contraceptive-induced cholestasis, especially in the light of our recently published findings about a positive association between ICP and ABCC2 common variants.
|
18395921 |
2008 |
|
Cholestasis of pregnancy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Serum bile acid and gamma-glutamyl transferase levels might help to distinguish ABCB4- and ABCB11-related forms of ICP and CIC.
|
18176959 |
2008 |
|
Cholestasis of pregnancy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ABCB11 are also associated with benign recurrent intrahepatic cholestasis type 2 and intrahepatic cholestasis of pregnancy in adult patients.
|
18853996 |
2008 |
|
Cholestasis of pregnancy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In contrast with ABCB11 haplotypes, ABCB4 haplotypes differed between the two groups (p = 0.019), showing that the severe form of cholestasis of pregnancy is associated with the ABCB4 gene variants.
|
16891356 |
2007 |
|
Cholestasis of pregnancy
|
0.400 |
Biomarker
|
disease |
BEFREE |
These results suggest that the clinical phenotypes of PFIC2, BRIC2, and ICP may directly correlate with the amount of mature protein that is expressed at the cell surface and that strategies to stabilize cell surface mutant protein may be therapeutic.
|
17855769 |
2007 |
|
Cholestasis of pregnancy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
MDR3 and BSEP were investigated by gene sequencing and immunofluorescence microscopy in a patient with severe ICP of early onset.
|
16890614 |
2006 |
|
Cholestasis of pregnancy
|
0.400 |
GeneticVariation
|
disease |
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 of pregnancy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Numerous studies have investigated the association of known cholestasis genes such as ABCB4 (also designated MDR3), ABCB11 ( BSEP) and ATP8B1 ( FIC1) with ICP.
|
15248112 |
2004 |
|
Cholestasis of pregnancy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Three non-synonymous sites in codons for evolutionarily conserved amino acids were specific for the ICP collective (BSEP, N591S; MDR3, S320F and G762E).
|
15077010 |
2004 |
|
Cholestasis of pregnancy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to investigate the genetic aetiology of intrahepatic cholestasis of pregnancy (ICP) and the impact of known cholestasis genes (BSEP, FIC1, and MDR3) on the development of this disease.
|
12801961 |
2003 |
|
Cholestasis of pregnancy
|
0.400 |
Biomarker
|
disease |
BEFREE |
The use of two intragenic SNPs in both single locus and haplotype analyses of association suggests that the BSEP gene is a susceptibility gene in intrahepatic cholestasis of pregnancy.
|
12825874 |
2003 |