Page 801 - Clinical Immunology_ Principles and Practice ( PDFDrive )

772 Part six Systemic Immune Diseases

TABLE 57.3 Genetic Factors implicated in spondyloarthritis
HLA-B27 AS = 90%, reactive arthritis = 70%; psoriatic spondylitis = 70%; peripheral psoriatic arthritis = 24%; IBD-associated arthritis =
60%. No association with psoriasis, Crohn disease, ulcerative colitis, or peripheral enteropathic arthritis
Other MHC genes AS=B*40, B*51, A*02, MICA*007, *019
IBD—None for Crohn disease per se; HLA-DRB1*01:03 for peripheral arthritis with IBD;HLA-DRA locus with UC; HLA-C*06:02
with psoriasis, HLA-B*38, B*39 with psoriatic arthritis
AS, CD, UC, and PS IL23R, IL10, ADCY3, IL12B, CDKAL1, CCL21, ZMIZ1, ETS1, SH2B3, FOS, TNP2, RPS6KB1, RAVER1, TYK2, DNMT3B, UBE2L3
AS, PS, and CD SP140, FUT2
AS, PS, and UC CD28, IRF5
AS, CD, and UC RORC, HMGN2P18, ITLN1, FCGR2A, DNMT3A, IL1R2, CXCR2, GPR35, MST1, ANTXR2, PTGER4, ERAP2, C5orf56, IRGM,
BACH2, C7orf72, JAK2, TLR4, ZNF365, NKX2-3, OR5B21, SMAD3, NOD2, IL27, ZPBP2, PTPN2
AS and CD alone IL6R, ANKRD55, FGFR1OP, TNFSF8, NOTCH1, TFRSF1A/LTBR, RIC8B, LSM14
AS and UC alone ASAP2, ITGAL, FAM118A
AS and PS alone ERAP1, TNFAIP3, ZC3H12C, PPP2R3C, NOS2
CD, UC, and PS PARK7, OSMR, RN7SKP226, IL2RA, PLAU, TSPAN14, NFKBIA, STAT3
CD and PS FIBP, TAGAP
UC and PS GNA-12, HDAC7A
CD and UC SDF4, PTPN22, DENND1B, GCKR, FOSL2, THADA, PUS10, IL18R1, BANK1, IL21, DAP, NDFIP1, PRDM1, SKAP2, TNFSF15,
CREM, GLYAT, CD6, IFNG-AS1, LINC00284, FNDC3A, UBAC2, CLEC16A, PRKCB, ORMDL3, CD226, KEAP1, PKIG, CD40,
ZNF831, TNFRSF6B, UQCR10
AS alone IL1R1, CMC1, NPM1P17, ACTA2, NPEPPS, ERN1
CD alone HIPK1, GBAP1, TEX41, TG16L1, GAL3ST2, CPEB4, CCR6, JAZF1, MYRF, LRRK2, SR1, C17orf67, NFATC1, SBNO2, STK11,
PPP5C, IFNGR2
UC alone TNFRSF14, RNF186, HSPA6, NR5A2, IL8RA; LSP1, NXPE1, SLC39A11, HNF4A, UBASH3A
PS/PsA alone IFNLR1, LCE3B, IL36RN, STAT4, IL17RD, FBXL1, IL4/IL13, TNIP1, TRAF3IP2, DEFB4, IL23A, IL22, GJB2, SETD1A, CARD14,
SOCS3, STARD6, ILF3, CARM1, SLC9A8, RNF114
HLA, human leukocyte antigen; MHC, major histocompatibility complex; IL23R, interleukin-23 receptor; ADCY3, adenylate cyclase 3; CDKAL1, CDK5 regulatory subunit-associated
protein 1-like 1; CCL21, chemokine; CC motif, ligand 21; IL12B, The Interleukin-12 p40 subunit; ZMIZ1, zinc finger MIZ-domain containing 1; ETS1, V-ETS avian erythroblastosis
virus E26 oncogene homologue 1; SH2B3, SH2B adaptor protein 3; FOS, V-FOS FBJ murine osteosarcoma viral oncogene homologue; TNP2, transition protein 2; RPS6KB1,
ribosomal protein S6 kinase, 70-kDa, 1; TYK2, tyrosine kinase 2; DNMT3B, DNA methyltransferase 3b; UBE2L3, ubiquitin-conjugating enzyme E2L; SP140, nuclear body protein
140; FUT2, fucosyl transferase 2; CD28, CD28 antigen; IRF5, interferon regulatory factor 5; RORC, RAR-related orphan receptor C-3; HMGN2P18, high mobility group nucleosomal
binding domain 2 pseudogene 18; ITLN, intelectin 1; FCGR2A, Fcγreceptor 2A; DNMT3A, DNA methyltransferase 3b; IL1R2, interleukin-1 receptor, type II; CXCR2, chemokine, CXC
motif, receptor 2; GPR35, G protein–coupled receptor 35; MST1, macrophage stimulating 1; ANTXR2, anthraxin receptor receptor 2; PTGER4, Prostaglandin E receptor 4, EP4
subtype; ERAP2, endoplasmic reticulum–associated aminopeptidase 2; C5orf56, chromosome 5 open reading frame 56; IRGM, immunity-related GTPase family, M; BACH2, basic
leucine zipper transcription factor 2; C7orf72, chromosome 7 open reading frame 72; JAK2, Janus kinase 2; TLR4, Toll-like receptor 4; ZNF365, Zinc finger protein 365; NKX2-3,
NK2 homeobox 3; OR5B21, olfactory receptor family 5 subfamily B member 21; SMAD3, Mothers against decapentaplegic, Drosophila, homologue of, 3; NOD2, Nucleotide-binding
oligomerization domain protein 2; IL27, interleukin-27; ZPBP2, zona pellucida–binding protein 2; PTPN2, protein tyrosine phosphatase, non–receptor type, 2; IL6R, interleukin-6
receptor; ANKRD55, ankyrin repeat domain–containing protein 55; FGFR1OP, fibroblast growth factor receptor 1 oncogene partner; TNFSF8, tumor necrosis factor ligand
superfamily, member 8; NOTCH1, NOTCH, Drosophila, homologue of, 1; TFRSF1A/LTBR, tumor necrosis factor receptor superfamily, member 1A/ lymphotoxin B receptor; RIC8B,
RIC8, C. elegans, homologue of, b; LSM14, LSM Protein A; ASAP2, development-and differentiation-enhancing factor 2; ITGAL, integrin, alpha-L; FAM118A, family with sequence
similarity 118 member A; ERAP1, endoplasmic reticulum aminopeptidase I; TNFAIP3, tumor necrosis factor-α-induced protein 3; ZC3H12C, zinc finger CCCH domain-containing
protein 12C; PPP2R3C, protein phosphatase 2, regulatory subunit B-double prime, γ; NOS2, nitric oxide synthase 2A; PARK7, Parkinson disease 7, autosomal recessive early-onset;
OSMR, oncostatin M receptor; RN7SKP226, RNA, 7SK small nuclear pseudogene 226; IL2RA, interleukin-2, receptor alpha; PLAU, plasminogen activator, urinary; TSPAN14,
tetraspanin 14; NFKBIA, nuclear factor of κ light chain gene enhancer in B-cell inhibitor, α; STAT3, signal transducer and activator of transcription 3; FIBP, fibroblast growth factor,
acidic, intracellular binding protein; TAGAP, T-cell activation GTPase-activating protein; GNA-12, guanine nucleotide-binding protein, α-12; HDAC7A, histone deacetylase 7A; SDF4,
stromal cell-derived factor 4; PTPN22, protein tyrosine phosphatase, non–receptor type, 22; DENND1B, DENN/MADD domain-containing protein 1B; GCKR, glucokinase regulatory
protein; FOSL2, FOS-like antigen 2; THADA, thyroid adenoma-associated gene; PUS10, pseudouridylate synthase 10; IL18R1, Interleukin-18 receptor; BANK1, B-cell scaffold protein
with ankyrin repeats 1; IL21, interleukin-21; DAP, death-associated protein; NDFIP1, NEDD4 family-interacting protein 1; PRDM1, PR domain-containing protein 1;SKAP2, SRC
kinase associated phosphoprotein 2; TNFSF15, tumor necrosis factor ligand superfamily, member 15; CREM, cAMP response element modulator; GLYAT, glycine N-acyltransferase;
CD6, CD6 molecule; IFNG-AS1, interferon gamma antisense RNA 1; LINC00284, long intergenic non–protein coding RNA 284; FNDC3A, fibronectin type III domain containing 3A;
UBAC2, UBA domain containing 2; CLEC16A, C-type lectin domain family 16, member A; PRKCB, protein kinase C, subunit B; ORMDL3, ORM1-like protein 3;CD226, CD226
antigen; KEAP, KELCH-like ECH-associated protein 1; PKIG, protein kinase, cAMP-dependent catalytic, inhibitor gamma; CD40, CD40 antigen; ZNF831, zinc finger protein 831;
TNFRSF6B, tumor necrosis factor receptor superfamily, member 6B; UQCR10, ubiquinol-cytochrome c reductase complex, 7.2-kDa subunit; IL1R1, interleukin-1 receptor, type I;
CMC1, COX assembly mitochondrial protein 1, S. cerevisiae, homologue of; NPM1P17, nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 17; ACTA2, actin,
α 2, smooth muscle, aorta; NPEPPS, aminopeptidase, puromycin-sensitive; ERN1, endoplasmic reticulum-to-nucleus signaling 1; HIPK1, homeodomain-interacting protein kinase 1;
GBAP1, glucosylceramidase β pseudogene 1; TEX41, testis expressed 41 (non–protein coding); ATG16L1, autophagy 16-like1; GAL3ST2, galactose-3-O-sulfotransferase 2; CPEB4,
cytoplasmic polyadenylation element-binding protein 4; CCR6, chemokine, cc motif, receptor 6; JAZF1, juxtaposed with another zinc finger gene 1; MYRF, chromosome 11 open
reading frame 9; LRRK2, leucine-rich repeat kinase 2; KSR1, kinase suppressor of RAS 1; C17orf67, chromosome 17 open reading frame 67; NFATC1, nuclear factor of activated
T-cells 1; SBNO2, strawberry notch, Drosophila, homologue of, 2; STK11, serine/threonine protein kinase 11; PPP5C, protein phosphatase 5, catalytic subunit; IFNGR, interferon-
γreceptor 1; TNFRSF14, tumor necrosis factor receptor superfamily, member 14; RNF186, Ring finger protein186; HSPA6, heat-shock 70-kDa protein 6; NR5A2, nuclear receptor
subfamily 5, group A, member 2; IL8RA, interleukin-8 receptor A; LSP1, lymphocyte specific protein 1; NXPE1, neurexophilin and PC-esterase domain family member 1; SLC39A11,
solute carrier family 39 (zinc transporter), member 11; HNF4A, hepatocyte nuclear factor 4-α; UBASH3A, ubiquitin-associated and SH3 domain-containing protein A; IFNLR1,
interferon-λ receptor 1; LCE3B, late cornified envelope protein 3b; IL36RN, Interleukin-36 receptor antagonist; STAT4, signal transducer and activator of transcription 4; IL17RD,
interleukin-17 receptor D FBXL1, S-phase kinase-associated protein 2; IL4/IL13, Interleukin-4/interleukin-13; TNIP1, TNFAIP3-interacting protein 1; TRAF3IP2, TRAF3-interacting
protein 2; DEFB4, Defensin β, 4A; IL23A, interleukin-23; IL22, interleukin-22; GJB2, gap junction protein, β 2 ; SETD1A, SET domain-containing protein 1A; CARD14, caspase
recruitment domain-containing protein 14; SOCS3, suppressor of cytokine signaling 3; STARD6, START domain-containing protein 6; ILF3, interleukin enhancer–binding factor 3;
CARM1, coactivator-associated arginine methyltransferase 1; SLC9A8, Solute carrier family 9 (sodium/hydrogen exchanger), member 8; RNF114, ring finger 114 protein.