Psoriasis: bases genéticas y patogenéticas

Actas Dermo-Sifiliográficas - Tập 105 - Trang 535-545 - 2014
L. Puig1, A. Julià2, S. Marsal2
1Servicio de Dermatología, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, España
2Grup de Recerca de Reumatologia, Institut de Recerca Vall d’Hebron, Barcelona, España

Tài liệu tham khảo

Asumalahti, 2003, Genetic analysis of PSORS1 distinguishes guttate psoriasis and palmoplantar pustulosis, J Invest Dermatol, 120, 627, 10.1046/j.1523-1747.2003.12094.x Gudjonsson, 2003, Psoriasis patients who are homozygous for the HLA-Cw*0602 allele have a 2.5-fold increased risk of developing psoriasis compared with Cw6 heterozygotes, Br J Dermatol, 148, 233, 10.1046/j.1365-2133.2003.05115.x Bowcock, 2004, The genetics of psoriasis, psoriatic arthritis and atopic dermatitis, Hum Mol Genet, 13, R43, 10.1093/hmg/ddh094 Nickoloff, 2007, Immunopathogenesis of psoriasis, Clin Rev Allergy Immunol, 33, 45, 10.1007/s12016-007-0039-2 Lowes, 2007, Pathogenesis and therapy of psoriasis, Nature, 445, 866, 10.1038/nature05663 Buchau, 2007, Innate immunity and antimicrobial defense systems in psoriasis, Clin Dermatol, 25, 616, 10.1016/j.clindermatol.2007.08.016 Ellis, 1986, Cyclosporine improves psoriasis in a double-blind study, JAMA, 256, 3110, 10.1001/jama.1986.03380220076026 Gottlieb, 1995, Response of psoriasis to a lymphocyte-selective toxin (DAB389IL-2) suggests a primary immune, but not keratinocyte, pathogenic basis, Nat Med, 1, 442, 10.1038/nm0595-442 Gottlieb, 2000, Anti-CD4 monoclonal antibody treatment of moderate to severe psoriasis vulgaris: results of a pilot, multicenter, multiple-dose, placebo-controlled study, J Am Acad Dermatol, 43, 595, 10.1067/mjd.2000.107945 Abrams, 2000, Blockade of T lymphocyte costimulation with cytotoxic T lymphocyte associated antigen 4-immunoglobulin (CTLA4Ig) reverses the cellular pathology of psoriatic plaques, including the activation of keratinocytes, dendritic cells, and endothelial cells, J Exp Med, 192, 681, 10.1084/jem.192.5.681 Kircik, 2009, Anti-TNF agents for the treatment of psoriasis, J Drugs Dermatol, 8, 546 Benson, 2011, Therapeutic targeting of the IL-12/23 pathways: generation and characterization of ustekinumab, Nat Biotechnol, 29, 615, 10.1038/nbt.1903 Boyman, 2004, Spontaneous development of psoriasis in a new animal model shows an essential role for resident T cells and tumor necrosis factor-alpha, J Exp Med, 199, 731, 10.1084/jem.20031482 Conrad, 2007, Alpha1 beta1 integrin is crucial for accumulation of epidermal T cells and the development of psoriasis, Nat Med, 13, 836, 10.1038/nm1605 Steinman, 2007, A brief history of T(H)17, the first major revision in the T(H)1/T(H)2 hypothesis of T cell-mediated tissue damage, Nat Med, 13, 139, 10.1038/nm1551 Kryczek, 2008, Induction of memory IL-17+ T cell trafficking and expansion by IFN-gamma: mechanism and pathological relevance, J Immunol, 181, 4733, 10.4049/jimmunol.181.7.4733 Nograles, 2009, IL-22-producing «T22» T cells account for upregulated IL22 in atopic dermatitis despite reduced IL-17-producing TH17 T cells, J Allergy Clin Immunol, 123, 1244, 10.1016/j.jaci.2009.03.041 Capon, 2004, An update on the genetics of psoriasis, Dermatol Clin, 22, 339, 10.1016/S0733-8635(03)00125-6 Valdimarsson, 2004, Psoriasis: a complex clinical and genetic disorder, Curr Rheumatol Rep, 6, 314, 10.1007/s11926-004-0044-x Allen, 2005, The major psoriasis susceptibility locus PSORS1 is not a risk factor for late-onset psoriasis, J Invest Dermatol, 124, 103, 10.1111/j.0022-202X.2004.23511.x Valdimarsson, 2007, The genetic basis of psoriasis, Clin Dermatol, 25, 563, 10.1016/j.clindermatol.2007.08.010 Sun, 2008, Follow-up analysis of 180 Chinese Han families: identification of a novel locus for psoriasis at 2p22.3-11.2, Br J Dermatol, 158, 512, 10.1111/j.1365-2133.2007.08417.x Nair, 2006, Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene, Am J Hum Genet, 78, 827, 10.1086/503821 Fan, 2008, Fine mapping of the psoriasis susceptibility locus PSORS1 supports HLA-C as the susceptibility gene in the Han Chinese population, PLoS Genet, 4, e1000038, 10.1371/journal.pgen.1000038 Duffin, 2009, Genetic variations in cytokines and cytokine receptors associated with psoriasis found by genome-wide association, J Invest Dermatol, 129, 827, 10.1038/jid.2008.308 Elder, 2010, Molecular dissection of psoriasis: integrating genetics and biology, J Invest Dermatol, 130, 1213, 10.1038/jid.2009.319 Cargill, 2007, A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes, Am J Hum Genet, 80, 273, 10.1086/511051 Nair, 2009, Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways, Nat Genet, 41, 199, 10.1038/ng.311 Capon, 2007, Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis, Hum Genet, 122, 201, 10.1007/s00439-007-0397-0 Smith, 2008, Polymorphisms in the IL-12beta and IL-23R genes are associated with psoriasis of early onset in a UK cohort, J Invest Dermatol, 128, 1325, 10.1038/sj.jid.5701140 Nair, 2008, Polymorphisms of the IL12B and IL23R genes are associated with psoriasis, J Invest Dermatol, 128, 1653, 10.1038/sj.jid.5701255 Huffmeier, 2009, Genetic variants of the IL-23R pathway: association with psoriatic arthritis and psoriasis vulgaris, but no specific risk factor for arthritis, J Invest Dermatol, 129, 355, 10.1038/jid.2008.233 Bowes, 2010, The genetics of psoriatic arthritis: lessons from genome-wide association studies, Discov Med, 10, 177 Liu, 2008, A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci, PLoS Genet, 4, e1000041, 10.1371/journal.pgen.1000041 Zhang, 2009, Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21, Nat Genet, 41, 205, 10.1038/ng.310 Bowes, 2010, Variants in linkage disequilibrium with the late cornified envelope gene cluster deletion are associated with susceptibility to psoriatic arthritis, Ann Rheum Dis, 69, 2199, 10.1136/ard.2010.130575 Huffmeier, 2010, Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients, Ann Rheum Dis, 69, 876, 10.1136/ard.2009.108951 Zheng, 2011, Variants in MHC, LCE and IL12B have epistatic effects on psoriasis risk in Chinese population, J Dermatol Sci, 61, 124, 10.1016/j.jdermsci.2010.12.001 Xu, 2011, Deletion of LCE3C and LCE3B genes is associated with psoriasis in a northern Chinese population, Br J Dermatol, 165, 882, 10.1111/j.1365-2133.2011.10485.x Duffin, 2009, Association between IL13 polymorphisms and psoriatic arthritis is modified by smoking, J Invest Dermatol, 129, 2777, 10.1038/jid.2009.169 Ellinghaus, 2010, Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2, Nat Genet, 42, 991, 10.1038/ng.689 Hüffmeier, 2010, Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis, Nat Genet, 42, 996, 10.1038/ng.688 Gudjonsson, 2009, Current understanding of the genetic basis of psoriasis, Expert Rev Clin Immunol, 5, 433, 10.1586/eci.09.13 Nair, 2009, Psoriasis bench to bedside: genetics meets immunology, Arch Dermatol, 145, 462, 10.1001/archdermatol.2009.73 Duffin, 2010, Genetic variations associated with psoriasis and psoriatic arthritis found by genome-wide association, Dermatol Ther, 23, 101, 10.1111/j.1529-8019.2010.01303.x Capon, 2008, Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene, Hum Mol Genet, 17, 1938, 10.1093/hmg/ddn091 Li, 2009, Further genetic evidence for three psoriasis-risk genes: ADAM33, CDKAL1, and PTPN22, J Invest Dermatol, 129, 629, 10.1038/jid.2008.297 Wolf, 2008, Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease, J Med Genet, 45, 114, 10.1136/jmg.2007.053595 Quaranta, 2009, Differential contribution of CDKAL1 variants to psoriasis, Genes Immun, 10, 654, 10.1038/gene.2009.51 Strange, 2010, A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1, Nat Genet, 42, 985, 10.1038/ng.694 Bijlmakers, 2011, Functional analysis of the RNF114 psoriasis susceptibility gene implicates innate immune responses to double-stranded RNA in disease pathogenesis, Hum Mol Genet, 20, 3129, 10.1093/hmg/ddr215 Sun, 2010, Association analyses identify six new psoriasis susceptibility loci in the Chinese population, Nat Genet, 42, 1005, 10.1038/ng.690 Stuart, 2010, Genome-wide association analysis identifies three psoriasis susceptibility loci, Nat Genet, 42, 1000, 10.1038/ng.693 Prinz, 2001, Psoriasis vulgaris--a sterile antibacterial skin reaction mediated by cross-reactive T cells? An immunological view of the pathophysiology of psoriasis, Clin Exp Dermatol, 26, 326, 10.1046/j.1365-2230.2001.00831.x Feng, 2009, Multiple loci within the major histocompatibility complex confer risk of psoriasis, PLoS Genet, 5, e1000606, 10.1371/journal.pgen.1000606 Pollock, 2011, Differential major histocompatibility complex class I chain-related A allele associations with skin and joint manifestations of psoriatic disease, Tissue Antigens, 77, 554, 10.1111/j.1399-0039.2011.01670.x Mallon, 2000, HLA-C and guttate psoriasis, Br J Dermatol, 143, 1177, 10.1046/j.1365-2133.2000.03885.x Baker, 2006, Peptidoglycan and peptidoglycan-specific Th1 cells in psoriatic skin lesions, J Pathol, 209, 174, 10.1002/path.1954 Gudjonsson, 2004, Immunopathogenic mechanisms in psoriasis, Clin Exp Immunol, 135, 1, 10.1111/j.1365-2249.2004.02310.x Hollox, 2008, Psoriasis is associated with increased beta-defensin genomic copy number, Nat Genet, 40, 23, 10.1038/ng.2007.48 Suzuki, 2004, Genetic polymorphisms of killer cell immunoglobulin-like receptors are associated with susceptibility to psoriasis vulgaris, J Invest Dermatol, 122, 1133, 10.1111/j.0022-202X.2004.22517.x Holm, 2005, Distinct HLA-C/KIR genotype profile associates with guttate psoriasis, J Invest Dermatol, 125, 721, 10.1111/j.0022-202X.2005.23879.x Williams, 2005, Activating killer cell immunoglobulin-like receptor gene KIR2DS1 is associated with psoriatic arthritis, Hum Immunol, 66, 836, 10.1016/j.humimm.2005.04.005 Płoski, 2006, A role for KIR gene variants other than KIR2DS1 in conferring susceptibility to psoriasis, Hum Immunol, 67, 521, 10.1016/j.humimm.2006.04.001 Chang, 2007, Cytokine gene polymorphisms in Chinese patients with psoriasis, Br J Dermatol, 156, 899, 10.1111/j.1365-2133.2007.07820.x Lippens, 2011, Keratinocyte-specific ablation of the NF-κB regulatory protein A20 (TNFAIP3) reveals a role in the control of epidermal homeostasis, Cell Death Differ, 18, 1845, 10.1038/cdd.2011.55 Matmati, 2011, A20 (TNFAIP3) deficiency in myeloid cells triggers erosive polyarthritis resembling rheumatoid arthritis, Nat Genet, 43, 908, 10.1038/ng.874 Martin, 2011, A20 edits ubiquitin and autoimmune paradigms, Nat Genet, 43, 822, 10.1038/ng.916 Kool, 2011, The ubiquitin-editing protein A20 prevents dendritic cell activation, recognition of apoptotic cells, and systemic autoimmunity, Immunity, 35, 82, 10.1016/j.immuni.2011.05.013 Harrington, 2005, Interleukin 17-producing CD4+ effector T cells develop via a lineage distinct from the T helper type 1 and 2 lineages, Nat Immunol, 6, 1123, 10.1038/ni1254 Newcomb, 2011, Human TH17 cells express a functional IL-13 receptor and IL-13 attenuates IL-17A production, J Allergy Clin Immunol, 127, 1006, 10.1016/j.jaci.2010.11.043 Marrakchi, 2011, Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis, N Engl J Med, 365, 620, 10.1056/NEJMoa1013068 Onoufriadis, 2011, Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis, Am J Hum Genet, 89, 432, 10.1016/j.ajhg.2011.07.022 Cowen, 2012, DIRA, DITRA, and new insights into pathways of skin inflammation: what's in a name?, Arch Dermatol, 148, 381, 10.1001/archdermatol.2011.3014 Jordan, 2012, PSORS2 is due to mutations in CARD14, Am J Hum Genet, 90, 784, 10.1016/j.ajhg.2012.03.012 Jordan, 2012, Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis, Am J Hum Genet, 90, 796, 10.1016/j.ajhg.2012.03.013