Sarcoidosis, Susceptibility To, 3

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

HLA-DRB1, BTNL2, ANXA11, IL18, HLA-DPB1, TGFB1, SLC11A1, SOD2, HLA-DQB1, HLA-DQA1, HLA-DRA, HLA-B, HLA-DMB, TYK2, HLA-C, ACE, APOM, HLA-V, ATF6B, ZSCAN12P1, CYP21A2, HLA-DOB, RBM45, STK19, FAM117B, C1orf141, GTF2H4, NOTCH4, IFNG, SMUG1, ZSCAN12, NOD2, MANBA, SP140, SLC27A5, SLC44A4, PARP9, TSBP1, ATXN2, OR5V1, ZSCAN16-AS1, C6orf15, USP8P1, HLA-DRB9, ATP8A2, VARS1, HLA-DRB3, TNF, LINC01149, TSBP1-AS1, LINC02571, CDH4, HLA-DQA2, CEL, OR12D3, MTCO3P1, LTA, IL2, IL1B, CHIT1, VEGFA, IL6, CCL5, TLR4, CCR2, CAT, CD14, PPARG, IL10, PTGS2, TLR2, CHI3L1, IL1A, CCR5, HLA-A, LYZ, IGF1, CR1, COPD, TRBV20OR9-2, SPP1, FCGR3B, FCGR3A, VDR, CFTR, CCL2, PDCD1, CSF2, SOAT1, CYP27B1, CCL3, IL17A, HSPA1L, MIF, VIM, FCGR2A, IL33, TAP2, FOXP3, FLT1, CXCL8, CXCL9, IL5, IL4R, SCGB1A1, IL4, IL2RA, STAT1, IL1RN, CXCL5, IL13, CCL17, CCL8, USO1, GPR162, PSMB8, PON1, FCGR2C, CXCL10, CD163, NCAM1, SEC14L2, MRC1, NXF1, MMP12, TGFB3, TGFB2, IFNA17, HLA-DRB4, AGER, AGT, AGTR1, ALB, FAS, WG, MIR34A, CD40, CDKN1A, HT, FLNB, FOLH1, HIF1A, ESAT, HSPA1B, HSPA1A, HLA-G, NUP214, MIR33A, MIR200B, MIR126, RAB23, WNT3, IL31, YWHAZ, CXCR4, ST8SIA4, ARHGEF5, SGSM3, ACKR4, NCOA3, RECK, PIK3R3, CCL15-CCL14, H3P44, SOCS1, DNAH11, TNFRSF25, IL4I1, TNFSF13, ADAM9, TCL1A, MUC5B, C10orf67, ERVK-12, MTCO2P12, TIMP2, IL19, ING4, TLR1, NT5C3A, TLR3, TLR7, OPN1MW3, ERVK-11, ERVK-22, DDX41, OPN1MW2, TNFRSF1A, TNFRSF1B, TNNI3, ERVK-2, HSP90B2P, TRH, RPL17-C18orf32, TSC2, TWIST1, H3C9P, CD24, RIPK2, OTUD1, KRT20, CXCL16, TLR10, VTCN1, POLG2, MARCHF7, CUL9, IL25, ICOSLG, SEMA4A, IGAN1, TMEM131, ACE2, IL17RA, PPARGC1A, LMOD1, NOCT, PTPN23, PHGDH, GREM1, HAVCR1, RTN4, KNL1, MYDGF, XAF1, ADAMDEC1, CD274, TNFSF13B, IL18R1, TCL1B, DPM2, PLB1, TIMELESS, KALRN, IL23R, TLR9, MBL3P, ZFYVE9, BAG3, ABCG1, CD200R1, SPECC1, ICOS, INTS4, SPATA2, SEC16A, TLR6, TSLP, NOD1, NDC80, HAVCR2, OBSCN, ANP32B, POSTN, ACTB, PSMD12, TERF1, GC, NR3C1, CXCR3, GNAO1, GLRX, GLI1, GLB1, OPN1MW, FOS, GSTP1, FLG, FGFR1, FGF13, FGF2, FCGR2B, FCGR1A, FABP4, GSTM1, GSTT1, IL7, HP, IGHG1, IFNA13, IFNA10, IFNA2, IFNA1, IFN1@, TNC, HNRNPD, GZMB, HMGB1, HLA-DQB2, HLA-DPA1, HLA-DOA, HLA-DMA, HGF, HFE, F13A1, F2R, ERG, AQP4, CD3G, BRAF, BMPR2, BDNF, BCL2, BBS2, B2M, APOA1, EPHX2, XIAP, APEH, ANXA2, ANXA1, ALK, AGTR2, ADA, MS4A1, CD80, CD86, TNFRSF8, EPHA2, EGR1, EDN1, CYBB, CX3CR1, CTNNB1, CSF1, CRP, COL3A1, COL1A2, COL1A1, CCR7, CMA1, CD69, CD68, IGKC, IL7R, TAP1, PTHLH, SAA1, S100A9, S100A8, RTN1, RREB1, RPL32, RPL17, PTH, SAT1, ACTN4, PSMB9, PSMB2, PRL, MAP2K7, PLA2G1B, PIK3CG, SAA2, CCL1, IL9, SELE, TACR1, TAC1, STAT4, STAT3, SNRNP70, FSCN1, SNCA, CX3CL1, CCL13, CXCL11, CCL22, CCL20, CCL19, CCL18, CCL16, CCL15, PIK3CD, PIK3CB, PIK3CA, KDR, MCAM, MBL2, SMAD3, LPA, LGALS1, LCN2, KIR2DL1, ITGAX, PDGFA, ITGAM, ITGAE, IRF5, IRF4, IL15, IL11, IL9R, MEFV, CIITA, MIP, MMP1, PAM, P4HB, ORM1, TNFRSF11B, NCL, MYD88, MUC1, COX2, MST1, MPP1, MNAT1, MMP14, MMP9, MMP7, MMP2, LINC02605

Drugs

Aviptadil, L-Pyr-L-Glu-L-Gln-L-Leu-L-Glu-L-Arg-L-Ala-L-Leu-L-Asn-L-Ser-L-Ser, Nitric oxide ( GENOSYL, KINOX, INOMAX )

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For a general description and a discussion of genetic heterogeneity of sarcoidosis, see 181000.

Mapping

Hofmann et al. (2008) performed a genomewide association study with greater than 440,000 single-nucleotide polymorphisms (SNPs) for sarcoidosis comprising 499 German individuals with sarcoidosis and 490 controls, and detected a series of genetic associations. The strongest association signal mapped to the ANXA11 gene (602572) on chromosome 10q22.3. Validation in an independent sample (1,649 cases, 1,832 controls) confirmed the association (for rs2789679, P = 3.0 x 10(-13)). Extensive fine mapping located the association signal to a region between exon 5 and exon 14 of ANXA11. A common nonsynonymous SNP (rs1049550, C-to-T, R230C) was found to be strongly associated with sarcoidosis.