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PRACA PRZEGLĄDOWA
Nowe aspekty patogenezy spondyloartropatii zapalnych. Część I. Uwarunkowania genetyczne i rola cząsteczek HLA-B27
 
 
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Data nadesłania: 14-02-2014
 
 
Data akceptacji: 12-03-2014
 
 
Data publikacji online: 04-06-2014
 
 
Data publikacji: 30-04-2014
 
 
Reumatologia 2014;52(2):105-111
 
SŁOWA KLUCZOWE
DZIEDZINY
STRESZCZENIE
Badania z ostatnich lat weryfikują zrozumienie patogenezy spondyloartropatii zapalnych (SpA). Wskazują one, że tradycyjne podtypy tej choroby mają wspólny komponent patogenezy. Składają się na niego pewne wspólne uwarunkowania genetyczne (allele HLA-B27, warianty genów IL-23R, ERAP1, ERAP2), które omówiono w niniejszym artykule. Oprócz tego istnieją podobieństwa dotyczące czynników środowiskowych i mechanizmów immunologicznych, co będzie przedmiotem następnych opracowań. Zmienił się również pogląd na rolę cząsteczek HLA-B27 w patogenezie SpA. Cząsteczki HLA-B27 występują w formie klasycznej i nieklasycznej, jako pojedyncze łańcuchy ciężkie lub ich homodimery. Cząsteczki klasyczne prezentują antygeny własne i obce, inicjując nabytą odpowiedź immunologiczną, natomiast cząsteczki nieklasyczne indukują odpowiedź autozapalną. W artykule omówiono również to zagadnienie.
 
REFERENCJE (39)
1.
Bakland G, Nossent HC. Epidemiology of spondyloarthritis: a review. Curr Rheumatol Rep 2013; 15: 351. .
 
2.
van der Horst-Bruinsma IE, Zack DJ, Szumski A, Koenig AS. Female patients with ankylosing spondylitis: analysis of the impact of gender across treatment studies. Ann Rheum Dis 2013; 72: 1221-1224. .
 
3.
Paramarta JE, Baeten D. Spondyloarthritis: from unifying concepts to improved treatment. Rheumatology (Oxford) 2013 Dec 24; doi: 10.1093/rheumatology/ket407. .
 
4.
Rudwaleit M, van der Heijde D, Landewé R, et al. The development of Assessment of SpondyloArthritis International Society classification criteria for axial spondyloarthritis (part II): validation and final selection. Ann Rheum Dis 2009; 68: 777-783. .
 
5.
Rudwaleit M, van der Heijde D, Landewé R, et al. The Assessment of SpondyloArthritis international Society classification criteria for peripheral spondyloarthritis and for spondyloarthritis in general. Ann Rheum Dis 2011; 70: 25-31. .
 
6.
Cauli A, Dessole G, Vacca A, et al. Susceptibility to ankylosing spondylitis but not disease outcome is influenced by the level of HLA-B27 expression, which shows moderate variability over time. Scand J Rheumatol 2012; 41: 214-218. .
 
7.
McHugh K, Bowness P. The link between HLA-B27 and SpA – new ideas on an old problem. Rheumatology 2012; 51: 1529-1539. .
 
8.
Khan MA. Polymorphism of HLA-B27: 105 subtypes currently known. Curr Rheumatol Rep 2013; 15: 363. .
 
9.
Van Gaalen FA. Does HLA-B*2706 protect against ankylosing spondylitis? A meta-analysis. Int J Rheum Dis 2012; 15: 8-12. .
 
10.
van Gaalen FA, Verduijn W, Roelen DL, et al. Epistasis between two HLA antigens defines a subset of individuals at a very high risk for ankylosing spondylitis. Ann Rheum Dis 2013; 72: 974-978. .
 
11.
Robinson PC, Brown MA. Genetics of ankylosing spondylitis. Mol Immunol 2014; 57: 2-11. .
 
12.
O’Rielly DD, Rahman P. Advances in the genetics of spondyloarthritis and clinical implications. Curr Rheumatol Rep 2013; 15: 347. doi:10.1007/s11926-013-0347-x. .
 
13.
Reveille JD. Genetics of spondyloarthritis – beyond the MHC. Nat Rev Rheumatol 2012; 8: 296-304. .
 
14.
International Genetics of Ankylosing Spondylitis Consortium (IGAS), Cortes C, Hadler A, Pointon J, et al. Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. Nat Genet 2013; 45: 730-738. .
 
15.
Monnet D, Kadi A, Izac B, et al. Association between the IL-1 family gene cluster and spondyloarthritis. Ann Rheum Dis 2012; 71: 885-890. .
 
16.
Lea WI, Lee YH. The association between interleukin-1 polymorphisms and susceptibility to ankylosing spondylitis: a meta-analysis. Joint Bone Spine 2012; 79: 370-374. .
 
17.
Wong RH, Wei JC, Huang CH, et al. Association of IL-12B genetic polymorphism with the susceptibility and disease severity of ankylosing spondylitis. J Rheumatol 2012; 39: 135-140. .
 
18.
Lee YH, Choi SJ, Ji JD, Song GG. Associations between interleukin-23R polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis. Inflamm Res 2012; 61: 143-149. .
 
19.
Duan Z, Pan F, Zeng Z, et al. Interleukin-23 receptor genetic polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis. Rheumatol Int 2012; 32: 1209-1214. .
 
20.
Wang S, Li G, Ge R, et al. Association of KIR genotype with susceptibility to HLA-B27-positive ankylosing spondylitis. Mod Rheumatol 2013; 23: 538-541. .
 
21.
Moon SJ, Oh EJ, Kim Y, et al. Diversity of killer cell immunoglobulin-like receptor genes in uveitis associated with autoimmune diseases: ankylosing spondylitis and Behçet disease. Ocul Immunol Inflamm 2013; 21: 135-143. .
 
22.
Conigliaro P, Scrivo R, Valesini G, Perricone R. Emerging role for NK cells in the pathogenesis of inflammatory arthropathies. Autoimmunity Rev 2011; 10: 577-581. .
 
23.
Sorrentino R, Böckmann RA, Fiorillo MT. HLA-B27 and antigen presentation: At the crossroads between immune defense and autoimmunity. Mol Immunol 2014; 57: 22-27. .
 
24.
Colbert RA, Tran TM, Layh-Schmitt G. HLA-B27 misfolding and ankylosing spondylitis. Mol Immunol 2014; 57: 44-51. .
 
25.
Uchanska-Ziegler B, Ziegler A, Schmieder P. Structural and dynamic features of HLA-B27 subtypes. Curr Opin Rheumatol 2013; 25: 411-418. .
 
26.
Infantes S, Lorente E, Barnea E, et al. Natural HLA-B*2705 protein ligands with glutamine as anchor motif: implications for HLA-B27 association with spondyloarthritis. J Biol Chem 2013; 288: 10882-10889. .
 
27.
Cauli A, Shaw J, Giles J, et al. The arthritis-associated HLA-B*27:05 allele forms more cell surface B27 dimers and free heavy chain ligands for KIR3DL2 than HLA-B*27:09. Rheumatology (Oxford) 2013; 52: 1952-1962. .
 
28.
Payeli SK, Kollnberger S, Marroquin Belaunzaran O, et al. Inhibiting HLA-B27 homodimer-driven immune cell inflammation in spondyloarthritis. Arthritis Rheum 2012; 64: 3139-3149. .
 
29.
McHugh K, Rysnik O, Kollnberger S, et al. Expression of aberrant HLA-B27 molecules is dependent on B27 dosage and peptide supply. Ann Rheum Dis 2014; 73: 763-770. .
 
30.
Shaw J, Hatano H, Kollnberger S. The biochemistry and immunology of non-canonical forms of HLA-B27. Mol Immunol 2014; 57: 52-58. .
 
31.
Lenart I, Guiliano DB, Burn G, et al. The MHC class I heavy chain structurally conserved cysteines 101 and 164 participate in HLA-B27 dimer formation. Antioxid Redox Signal 2012; 16: 33-43. .
 
32.
Layh-Schmitt G, Yang EY, Kwon G, Colbert RA. HLA-B27 alters the response to TNF alpha and promotes osteoclastogenesis in bone marrow monocytes from HLA-B27 transgenic rats. Arthritis Rheum 2013; 65: 2123-2131. .
 
33.
Feng Y, Ding J, Fan CM, Zhu P. Interferon-gamma contributes to HLA-B27-associated unfolded protein response in spondyloarthropathies. J Rheumatol 2012; 39: 574-582. .
 
34.
Zeng L, Lindstrom MJ, Smith JA. Ankylosing spondylitis macrophages produce greater interleukin-23 in response to lipopolysaccharide without significant Unfolded Protein Response induction. Arthritis Rheum 2011; 63: 3807-3817. .
 
35.
Ciccia F, Accardo-Palumbo A, Rizzo A, et al. Evidence that autophagy, but not the unfolded protein response, regulates the expression of IL-23 in the gut of patients with ankylosing spondylitis and subclinical gut inflammation. Ann Rheum Dis 2013 Jun 5. doi: 10.1136/annrheumdis-2012-202925. .
 
36.
Kollnberger S, Bird L, Sun MY, et al. Cell-surface expression and immune receptor recognition of HLA-B27 homodimers. Arthritis Rheum 2012; 46: 2972-2982. .
 
37.
Shaw J, Kollnberger S. New perspectives on the ligands and function of the killer cell immunoglobulin-like receptor KIR3DL2 in health and disease. Front Immunol 2012; 3: 339. .
 
38.
Wong-Baeza I, Ridley A, Shaw J, et al. KIR3DL2 binds to HLA-B27 dimers and free H chains more strongly than other HLA class I and promotes the expansion of T cells in ankylosing spondylitis. J Immunol 2013; 190: 3216-3224. .
 
39.
Bowness P, Ridley A, Shaw J, et al. Th17 cell expressing KIR3DL2 and responsive to HLA-B27 homodimers are increased in ankylosing spondylitis. J Immunol 2011; 186: 2672-2680.
 
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