Biliary Cirrhosis, Primary, 2

Watchlist

(log in to enable)

Retrieved

2019-09-22

Source

Omim

Trials

—

Genes

IL12A, SPIB, IL12RB1, ABCC2, NOS2, MMEL1, TNFSF15, STAT4, POU2AF1, NFKB1, CLEC16A, IRF5, TNPO3, TYK2, IL7R, DENND1B, TNFRSF1A, SLC4A2, ABCB4, ALB, CD80, CXCL10, NFE2L2, TGFB1, LOXL2, IL12B, CXCL9, LOX, CXCR5, HIF1A, NOS3, KEAP1, SLC51A, ICAM3, MAPK14, CYGB, CDH5, SLC51B, IGFBP1, RELA, CCL5, UBD, ENTPD2, ABCG2, CD3D, NSA2, KRT7, IL4, PPARGC1A, HAMP, ACE, VEGFA, JAK2, SLCO1C1, MMP13, HMOX1, ACE2, DAG1, HHIP, CPEB1, MAS1, MAP3K14, MMP2, MMP3, PDE5A, MMP9, RPS6KB1, AGT, COL1A1, REN, CCN2, AQP4, HLA-DPB1, IL12RB2, IKZF3, HLA-DRA, IL16, GSDMB, IL21R, PRKCB, SYNGR1, ORMDL3, ZPBP2, TNFSF8, PAX3, DGKQ, MAPK8IP1P1, PLCL2, KANSL1-AS1, MAPK8IP1P2, PLCB1, RPL3, TP63, IL10, NSF, RAD51B, KANSL1, CD58, PSMG4, CYP21A2, ATXN2, LINC01100, LINC02820, LINC02210-CRHR1, SKIV2L, RPS6KA4, SP100, MAPT, MANBA, TSBP1-AS1, IL12A-AS1, ELMO1, LTBR, EIF4EP2, SH2B3, DLEU1, STAT1, MAPT-IT1, NAB1, TSBP1, DELEC1, MAPT-AS1, CCDC88B, ARHGAP31, PRICKLE1, GLI3, PSMD3, TMEM39A, LINC02210, SPPL2C, WNT3, SDK1, COL17A1, SLC22A23, SLC17A8, CNTN5, PRDM16, CTLA4, CDK12, GRIK1, HLA-DRB1, MED1, EIF4E, RBM45, ARID3A, TIMMDC1, STH, FBXL20, EXOC3L4, DLAT, RMI2, DDX6, TNF, VDR, IFNG, NUP210, PML, TLR4, FOXP3, CDKN1A, FGF19, IL17A, GPT, OGDH, IL1B, CD40LG, CXCL8, SQSTM1, CYP7A1, ABCB11, CDKN2A, HLA-DOA, PPARA, HK1, BCL2, DLST, PDC, ABCB1, TNFSF11, PDHX, TRIM21, NR1I2, ICAM1, SLPI, ATHS, MIR506, GGT1, CD14, SLC12A9, NAT10, HGF, GGTLC5P, HLA-DQA1, GGTLC3, GGT2, CD40, GGTLC4P, PDLIM3, CD19, PTPN22, IL2, ATRNL1, IL5, ASRGL1, ATN1, TBC1D9, MIR21, CCL27, DBT, ALPP, TGFBR2, XPR1, SULT2A1, SYCE1L, C4B_2, LOC102723407, LOC102724197, LOC102724971, TLR2, IL21, GPBAR1, SLC22A1, SLCO1B1, KHDRBS1, BTG3, NUP62, ABCC3, SOCS1, B3GAT1, DCTN4, GGTLC1, CDR3, NELFCD, KRT20, KLHL1, NR1H4, KLHL12, TP53, SLC10A2, H3P10, ESR2, LGALS3BP, HLA-A, CDKN1B, C4A, CYP3A4, C4B, CX3CR1, GTF2H1, POU2F1, MS4A1, CTSZ, GABPA, NRAS, CCR5, CD86, CXCR3, IL7, CD79A, FBL, ESR1, SLC10A1, HLA-DRB3, APOE, HNF4A, IL2RA, HSPD1, PPP1R2C, GLB1, GATM, PDCD1LG2, LRRC32, PNPLA3, MARCKSL1, FOXO3, FOXO1, WLS, FH, AGBL2, VTCN1, TNFAIP8L2, SLC25A1, POGLUT1, NR3C1, SIAE, IGF1, IFI27, SOST, TMED7, HMGB1, IL23A, HLA-DQB1, HLA-DPA1, HLA-B, TLR9, PDP1, COG6, RBFOX1, DPP8, GZMB, ITLN1, PRPF40A, WDR11, GSTM2, PRAM1, GSTM1, JPH3, JAM3, NQO1, NBPF3, MIR223, MIR505, CD1D, CD1C, DDR1, SPATA31A3, BRCA1, BHMT, BCR, BCL3, ATM, AREG, ABCC6, DEFB4B, FASLG, TMED7-TICAM2, FAS, APEX1, AIRE, ANXA11, ANXA2, ACTB, LINC02605, H3P23, MIR425, MIR210, DNMT1, CD28, DPP9, DNASE1, DMBT1, SP140L, TBX21, DBA2, DEFB4A, FCRL3, CTHRC1, DEFB1, LRG1, CYP2D6, COL9A3, CNGB1, CCR7, CHUK, CHRM3, CFTR, CD74, LINC01193, TICAM2, MIR155, MIR197, CD207, CD274, SCHIP1, POLR2G, SERPINA1, WNT2B, PRRC2A, PDK4, FOSL1, KMT2D, CDK2AP1, PDGFB, NR0B2, PDCD1, OPRM1, RNASET2, TNFRSF11B, DDR2, NOTCH1, TNFSF10, TNFSF9, TNFRSF11A, IL18R1, NFYA, MYD88, WASF1, ABCC1, HAP1, MIF, PIK3CA, VCAM1, EBAG9, UGT2B4, SOAT1, CXCL12, CCL24, SPINT1, SPP1, SRY, CCL20, CCL11, STAT3, SCTR, STAT5A, STAT5B, SERPINB3, TFF3, S100A12, RDX, TGM2, PTGS2, TLR3, PSMD9, PSMA4, PRF1, PPARG, TPMT, TNFSF4, CD99, MBL2, ICOS, TNFSF13B, ITGB2, ITGAV, RIPK3, ITGAL, PDZD2, ITGA5, ITGA1, ISG20, IL18, IL13, ICOSLG, SLC44A1, CLDN14, IL6, SS18L1, IL1RN, IL1A, INTU, AGO2, IL37, IGHG3, HPGDS, SLCO1B3, TRBV10-1, ABO, ITIH4, DCTN6, KLF4, KRT18, SLIT2, NTN1, SMAD3, HDAC9, KMT2B, SMAD2, CD180, LTA, LRP1, NR1I3, LPA, DGCR2, LORICRIN, EBI3, KLRG1, CALCOCO2, ABCC4, CCL26, LGALS3, CIB1, ZNRD2, LEP, GNLY, LAMP1, L1CAM, ABCA1

Drugs

(2S)-2-{[(2R)-2-[({[3,3-dibutyl-7-(methylthio)-1,1-dioxido-5-phenyl-2,3,4,5-tetrahydro-1,2,5-benzothiadiazepin-8-yl]oxy}acetyl)amino]-2-(4-hydroxyphenyl)acetyl]amino}butanoic acid, Elafibranor, Engineered variant of recombinant human fibroblast growth factor 19 (FGF 19), Maralixibat, Obeticholic acid ( OCALIVA ), Seladelpar, Ursodeoxycholic acid ( DELURSAN, URSO, URSOLVAN ), Variant of recombinant human fibroblast growth factor 19

Interested in hearing about new therapies?

Description

Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by Kaplan, 1996).

For a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 (109720).

Mapping

In a 2-stage genomewide association study involving a total of 536 patients with primary biliary cirrhosis and 1,536 controls, Hirschfield et al. (2009) found significant association between PBC and 13 loci across the HLA class II region on chromosome 6p21.3, with HLA-DQB1 (604305) having the strongest association (combined p for rs2856683 = 1.78 x 10(-19); odds ratio, 1.75).