Biliary Cirrhosis, Primary, 5

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Retrieved

2019-09-22

Source

Omim

Trials

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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

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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

To replicate the findings of Hirschfield et al. (2009) and to evaluate the relevance of identified loci to PBC susceptibility, Hirschfield et al. (2010) tested an additional independent cohort of 857 individuals with PBC and 3,198 controls, all of European descent, for PBC associations with 36 SNPs across 24 loci. The combination of these replication results and the prior genomewide association data yielded a genetic dataset derived from 1,351 PBC cases and 4,700 controls. Hirschfield et al. (2010) identified association with PBC at a region on chromosome 17q12-q21 represented by SNP rs11557467 in the ZPBP2 gene (608499) (combined p = 3.5 x 10(-13), OR = 0.72).

Liu et al. (2010) identified rs9303277 at chromosome 17q12-q21, with a p value of 1.69 x 10(-9) and an odds ratio of 1.38, as a risk allele for PBC in an Italian cohort and a Canadian replication group.