Human | GHRL | 51738 | ghrelin/obestatin prepropeptide | data confirm in primary biliary cirrhosis patients that serum bound leptin levels are increased and show a parallel decrease in serum ghrelin concentrations acting as a physiological counterpart to leptin |
Human | PTPN22 | 26191 | protein tyrosine phosphatase, non-receptor type 22 (lymphoid) | PTPN22 gene (1858T)does not confer risk for primary biliary cirrhosis (PBC) and does not account for the frequent presence of other autoimmune diseases in patients with PBC |
Human | GNLY | 10578 | granulysin | Increased expression in pbmc and elevated serum levels correlated with the severity of primary biliary cirrhosis |
Human | ABCC4 | 10257 | ATP-binding cassette, sub-family C (CFTR/MRP), member 4 | MRP4 protein levels were induced three-fold in primary biliary cirrhosis, whereas mRNA levels remained unchanged |
Human | TNFSF10 | 8743 | tumor necrosis factor (ligand) superfamily, member 10 | both mTRAIL and sTRAIL might be involved in the development and progression of primary biliary cirrhosis and chronic hepatitis B in humans, but the mechanisms might be different |
Human | ABCB11 | 8647 | ATP-binding cassette, sub-family B (MDR/TAP), member 11 | Data do not support a strong role of BSEP and MDR3 genetic variations in the pathogenesis of primary biliary cirrhosis and primary sclerosing cholangitis |
Human | PDHX | 8050 | pyruvate dehydrogenase complex, component X | Despite the presence of antibodies reactive with PDC-E3BP in the majority of primary biliary cirrhosis (PBC) patients this self-protein is not a dominant T-cell autoantigen in PBC |
Human | TLR4 | 7099 | toll-like receptor 4 | Toll-like receptor 4 (TLR4) is expressed in bile duct epithelial cells and periportal hepatocytes in primary biliary cirrhosis (PBC) livers, suggesting the possible involvement of bacterial pathogens and TLR4 in the inflammatory processes of PBC |
Human | TGFBR2 | 7048 | transforming growth factor, beta receptor II (70/80kDa) | Mice transgenic for directed expression of a dominant negative TGF beta receptor type II, under the CD4 promoter lacking the CD8 silencer, spontaneously develop features characteristic of primary biliary cirrhosis |
Human | TGFB1 | 7040 | transforming growth factor, beta 1 | TGF-beta1 promoter gene single nucleotide polymorphisms are not associated with disease susceptibility or progression in Japanese patients with primary biliary cirrhosis |
Human | TFF3 | 7033 | trefoil factor 3 (intestinal) | expression of ITF may play an important role in bile duct damage because in small bile ducts, production is absent, making such cells vulnerable and providing a thesis for the loss of small, but not large, bile ducts in primary biliary cirrhosis |
Human | STAT3 | 6774 | signal transducer and activator of transcription 3 (acute-phase response factor) | expression and DNA-binding activity of this protein in alcoholic cirrhosis compared to normal liver and primary biliary cirrhosis in humans |
Human | ABCB4 | 5244 | ATP-binding cassette, sub-family B (MDR/TAP), member 4 | The Hap 2/Hap 2 diplotype in MDR3 could therefore be potentially applied to DNA-based diagnosis in Japanese patients with primary biliary cirrhosis (PBC) as a strong genetic biomarker for predicting the progression and prognosis of PBC |
Human | ABCB1 | 5243 | ATP-binding cassette, sub-family B (MDR/TAP), member 1 | Common MDR1 gene polymorphisms do not affect disposition of budesonide in early PBC |
Human | CXCL9 | 4283 | chemokine (C-X-C motif) ligand 9 | Increased plasma monokine induced by gamma interferon (MIG) levels in daughters and sisters of primary biliary cirrhosis (PBC) patients demonstrates involvement of MIG interaction with its receptor CXCR3 as a familial risk factor for PBC |
Human | CD180 | 4064 | CD180 molecule | Expression of RP105 and TLR4 is altered on PBC monocytes, which appear to be hypersensitive to LPS, resulting in increased secretion of pro-inflammatory cytokines |
Human | LEP | 3952 | leptin | data confirm in primary biliary cirrhosis patients that serum bound leptin levels are increased and show a parallel decrease in serum ghrelin concentrations acting as a physiological counterpart to leptin |
Human | CXCL10 | 3627 | chemokine (C-X-C motif) ligand 10 | Increased plasma IP-10 levels in daughters and sisters of primary biliary cirrhosis (PBC) patients demonstrates involvement of IP-10 interaction with its receptor CXCR3 as a familial risk factor for PBC |
Human | IDO1 | 3620 | indoleamine 2,3-dioxygenase 1 | We submit that an impaired IDO induction characterizes PBC (primary biliary cirrhosis)and might represent a contributing factor in disease pathogenesis in association with several specific defects in the target tissue |
Human | IGF1 | 3479 | insulin-like growth factor 1 (somatomedin C) | Title:Decreased bone mineral density and gene polymorphism in primary biliary cirrhosis , trans Csokkent csontasvanyianyag-tartalom es genpolimorfizmus primer biliaris cirrhosisban.|Association:Y|Conclusion:In contrast to previous studies the s allele was less frequent in patients with PBC, and its presence was not associated with lower bone mineral density. Since IGF-I polymorphism was associated to BMD, it may be hypothesized that IGF-I microsatellite repeat polymorphism together with other genetic and environmental factors may be involved in the complex regulation of BMD in PBC. |
Human | HLA-DRB1 | 3123 | | Associated DRB1 alleles were found only in a minority of primary biliary cirrhosis patients, whereas an additive genetic model is supported by the gene dosage effect for DRB1*11 allele and the interaction of DRB1*11,*13, and *08 a complex relationship exists between HLA and PBC, and some genetic associations may be population specific |
Human | HLA-A | 3105 | | The susceptibility to PBC in Chinese individuals is associated with DRB1*0701 allele |
Human | GSTP1 | 2950 | glutathione S-transferase pi 1 | that lipid peroxidation in the bile ducts with reduced expression of glutathione-S-transferase-pi, may be an important pathologic process leading to the bile duct damage of primary biliary cirrhosis |
Human | CXCR3 | 2833 | chemokine (C-X-C motif) receptor 3 | The frequency of CXCR3-expressing cells in peripheral blood is significantly higher in primary biliary cirrhosis, and CXCR3-positive cells are also found in the portal areas of diseased livers, primarily on CD4-positive T cells |
Human | GOT1 | 2805 | glutamic-oxaloacetic transaminase 1, soluble | Serum bilirubin, alkaline phosphatase, and aspartate aminotransferase are an efficient set of biochemistries to identify UDCA-treated patients with primary biliary cirrhosis at risk of death or liver transplantation (LT) |