Polymorphism of HLA-B27: 105 subtypes currently known topical collection on seronegative arthritis

Current Rheumatology Reports

Volumn 15, Issue 10, 2013, Pages

  Khan, Muhammad Asim ^a  

^a METROHEALTH MEDICAL CENTER   (United States)

Author keywords

Alleles; Ankylosing spondylitis; ERAP1; Genetic heterogeneity; HLA B*27; HLA B*27:05; HLA B*27:0502; HLA B27; Pathogenesis; Polymorphism; Spondyloarthritis; Spondyloarthropathies; Subtypes

Indexed keywords

HLA B27 ANTIGEN;

ALLELE; ANKYLOSING SPONDYLITIS; ASIAN CONTINENTAL ANCESTRY GROUP; CAUCASIAN; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; HUMAN; IMMUNOLOGY;

ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC PREDISPOSITION TO DISEASE; HLA-B27 ANTIGEN; HUMANS; POLYMORPHISM, GENETIC; SPONDYLITIS, ANKYLOSING;

EID: 84896414737     PISSN: 15233774     EISSN: 15346307     Source Type: Journal    
DOI: 10.1007/s11926-013-0362-y     Document Type: Article

References (65)

1. Thorsby E. HL-A antigens and genes. I. A study of unrelated Norwegians. Vox Sang. 1969;17:81-92.
2. Brewerton DA. Discovery: HLA and disease. Curr Opin Rheumatol. 2003;15(4):369-73. (Pubitemid 36774246)
3. Brewerton DA, Hart FD, Nicholls A, et al. Ankylosing spondylitis and HL-A 27. Lancet. 1973;1:904-7.
4. Schlosstein L, Terasaki PI, Bluestone R, et al. High association of an HL-A antigen, W27, with ankylosing spondylitis. N Engl J Med. 1973;288:704-6.
5. Brewerton DA, Caffrey M, Nicholls A, James DCO (1974) HL-A 27 and arthropathies associated with ulcerative colitis and psoriasis. Lance i: 956-958.
6. Khan MA, Kushner I, Braun WE: Low incidence of HLA-B27 in American Blacks with spondyloarthropathies. Lancet. 1976; i: 483.
7. Khan MA, Kushner I, Braun WE. Comparison of clinical features of HLA-B27 positive and negative patients with ankylosing spondylitis. Arthritis Rheum. 1977;20:909-12.
8. Khan MA. B27 and ankylosing spondylitis in different races. In: Dawkins RL, Christiansen FT, Zilko PJ, editors. Immunogenetics in Rheumatology. Amsterdam: Excerpta Medica; 1982. p. 188-90.
9. Little AM, Parham P. Polymorphism and evolution of HLA class I and II genes and molecules. Review in Immunogenetics. 1999;1:105-23.
10. Khan MA, Ball EJ. Genetic aspects of ankylosing spondylitis. Best Pract Res Clin Rheumatol. 2002;16:675-90.
11. Khan MA. Remarkable Polymorphism of HLA-B27: An Ongoing Saga. Curr Rheumatol Report. 2010;12:337-41.
12. IMGT/HLA. Release 3.13.1, 2013-07-25.
13. • Khan MA. HLA in spondyloarthropathies. Chapter 16. In: Mehra NK, editor. The HLA Complex in Biology and Medicine. A resource Book. New Delhi, India: Jaypee Brothers Medical Publishers Ltd; 2010. p. 259-75. A good review of HLA association with ankylosing spondylitis and related spondyloarthropathies, and of polymorphism of HLA-B27, with amino acid sequence differences.
14. www.hlab27.com
15. Liu X, Hu LH, Li YR, Chen FH, Ning Y, Yao QF. The association of HLA-B*27 subtypes with ankylosing spondylitis in Wuhan population of China. Rheumatol Int. 2010;30(5):587-90.
16. • Liu Y, Jiang L, Cai Q, Danoy P, Barnardo MC, Brown MA, et al. Predominant association of HLA-B*2704 with ankylosing spondylitis in Chinese Han patients. Tissue Antigens. 2010;75(1):61-4. The study indicates that B-2704 carries higher risk for ankylosing spondylitis in Chinese population than those who posses B-2705 in Chinese AS cases.
17. Garcia-Fernandez S, Gonzalez S, Mina Blanco A, Martinez-Borra J, Blanco-Gelaz M, López-Vazquez A, et al. New insights regarding HLA-B27 diversity in the Asian population. Tissue Antigens. 2001;58:259-62. (Pubitemid 34015430)
18. Gonzalez S, Garcia-Fernandez S, Martinez-Borra J, Blanco-Gelaz MA, Rodrigo L, Sanchez del Rio J, et al. High variability of HLA-B27 alleles in ankylosing spondylitis and related spondyloarthropathies in the population of northern Spain. Hum Immunol. 2002;63(8):673-6. (Pubitemid 34816110)
19. Mou Y, Wu Z, Gu J, Liao Z, Lin Z, Wei Q, et al. HLA-B27 polymorphism in patients with juvenile and adult-onset ankylosing spondylitis in Southern China. Tissue Antigens. 2010;75(1):56-60.
20. Meryem A, Noureddine B, Ouafaa MS, Abderrahmane B, Abdellah N, Mohamed F, et al. HLA-B27 Subtypes Distribution among Moroccan Patients with Ankylosing Spondylitis. American Journal of Medical and Biological Research. 2013;1(1):28-32.
21. Nasution AR, Mardjuadi A, Kunmartini S, et al. HLA-B27 subtypes positively and negatively associated with spondyloarthropathy. J Rheumatol. 1997;24:1111-4. (Pubitemid 27250118)
22. Sudarsono D, Hadi S, Mardjuadi A, Nasution AR, Dekker-Sayes A, Breur-Vrisendorp BS, et al. Evidence that HLA-B*2706 is not protective against spondyloarthropathy. J Rheumatol. 1999;26:934-1936.
23. Van Gaalen FA. Does HLA-B*2706 protect against ankylosing spondylitis? A meta-analysis. Int J Rheum Dis. 2012;15(1):8-12.
24. Paladini F, Taccari E, Fiorillo MT, Cauli A, Passiu G, Mathieu A, et al. Distribution of HLA-B27 subtypes in Sardinia and continental Italy and their association with spondyloarthropathies. Arth Rheum. 2005;52(10):3318-21. (Pubitemid 41447118)
25. Khan MA, Mathieu A, Sorrentino R, Akkoc N. The pathogenic role of HLA-B27 and its subtypes in ankylosing spondylitis. Autoimmunity Reviews. 2007;6(3):183-9. (Pubitemid 46187337)
26. Cauli A, Vacca A, Mameli A, Passiu G, Fiorillo MT, Sorrentino R, et al. A Sardinian patient with ankylosing spondylitis and HLA-B*2709 co-occurring with HLA-B*1403. Arthritis Rheum. 2007;56(8):2807-9. (Pubitemid 47237304)
27. Olivieri I, D'Angelo S, Scarano E, Santospirito V, Padula A. The HLA-B*2709 subtype in a woman with early ankylosing spondylitis. Arthritis Rheum. 2007;56(8):2804-7. (Pubitemid 47237303)
28. Cauli A, Vacca A, Dessole G, Fiorillo MT, Porru G, Ibba V, et al. HLA-B*2709 and lack of susceptibility to sacroiliitis: further support from the clinic. Clin Exp Rheumatol. 2008;26(6):1111-2.
29. Khan MA. Spondyloarthropathies. In: Hunder G, editor. Atlas of Rheumatology. 4th ed. PA.: Current Medicine. Philadelphia; 2005. p. 141-67.
30. Khan MA, Kushner I, Braun WE, Zachary AA, Steinberg AG. HLA-B27 homozygosity in ankylosing spondylitis: relationship to risk and severity. Tissue Antigens. 1978;11:434-8. (Pubitemid 8371623)
31. Jaakkola E, Herzberg I, Laiho K, Barnardo MC, Pointon JJ, Kauppi M, et al. Finnish HLA studies confirm the increased risk conferred by HLA-B27 homozygosity in ankylosing spondylitis. Ann Rheum Dis. 2006;65(6):775-80. (Pubitemid 43799177)
32. Kim TJ, Na KS, Lee HJ, Lee B, Kim TH. HLA-B27 Homozygosity has no influence on clinical manifestations and functional disability in Ankylosing Spondylitis. Clinical and Experimental Rheumatology. 2009;27:574-9.
33. Khan MA, Kushner I, Braun WE. B27-negative HLA-Bw16 in ankylosing spondylitis. Lancet. 1978;1:1370-1. (Pubitemid 8367153)
34. Khan MA, Kushner I, Braun WE. A subgroup of ankylosing spondylitis associated with HLA-B7 in American Blacks. Arthritis Rheum. 1978;21:528-30. (Pubitemid 9145762)
35. Khan MA. B7 CREG and ankylosing spondylitis. Br J Rheumatol. 1983;22 Suppl 2:129-33.
36. Khan MA. Ankylosing spondylitis and heterogeneity of HLA-B27. Semin Arthritis Rheum. 1988;18:134-41.
37. Crivellato E, Zacchi T. HLA-B39 and the axial type of psoriatic arthritis. Acta Derm Venereol. 1987;67(3):249-50. (Pubitemid 17084988)
38. Yamaguchi A, Tsuchiya N, Mitsui H, et al. Association of HLA-B39 with HLA-B27-negative ankylosing spondylitis and pauciarticular juvenile rheumatoid arthritis in Japanese patients: evidence for a role of the peptide-anchoring B pocket. Arthritis Rheum. 1995;38:1672-7.
39. Devraj JP, Shankarkumar U, Ghosh K. Increased frequency of HLA-B7 among B27-negative seronegative spondarthritis patients from Mumbai, western India. Br J Biomed Sci. 2009;66(1):25-7.
40. Robinson WP, van der Linden SM, Khan MA, Rentsch H-U, Cats A, Russell AS, et al. HLA-Bw60 increases susceptibility to ankylosing spondylitis in HLA-B27 positive individuals. Arthritis Rheum. 1989;32:1135-41. (Pubitemid 19237868)
41. Brown MA, Pile KD, Kennedy LG, et al. HLA class I associations of ankylosing spondylitis in the white population in the United Kingdom. Ann Rheum Dis. 1996;55:268-70. (Pubitemid 26120706)
42. Wei JC, Tsai WC, Lin HS, Tsai CY, Chou CT. HLA-B60 and B61 are strongly associated with ankylosing spondylitis in HLA-B27-negative Taiwan Chinese patients. Rheumatology (Oxford). 2004;43(7):839-42. (Pubitemid 38996956)
43. •• International Genetics of Ankylosing Spondylitis Consortium (IGAS), Cortes A, Hadler J, Pointon JP, et al. Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loc. Nat Genet. 2013. doi: 10.1038/ng.2667. A multicenter case-control association study involving 10,619 patients with ankylosing spondylitis and 15,145 controls has identified 13 new risk loci and 12 additional ankylosing spondylitis-associated haplotypes at 11 loci.
44. Cedoz JP, Wendling D, Viel JF. The B7 cross reactive group and spondyloarthropathies: an epidemiological approach. J Rheumatol. 1995;22(10):1884-90.
45. van Gaalen FA, Verduijn W, Roelen DL, Böhringer S, Huizinga TW, van der Heijde DM, 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(6):974-8.
46. • Haroon N. Endoplasmic reticulum aminopeptidase 1 and interleukin-23 receptor in ankylosing spondylitis. Curr Rheumatol Rep. 2012;14(5):383-9. Good review on ERAP1 and IL-23R.
47. • Alvarez-Navarro C, López de Castro JA. ERAP1 in ankylosing spondylitis: genetics, biology and pathogenetic role. Curr Opin Rheumatol. 2013;25(4):419-25. Good review of pathogenetic function of ERAP1.
48. Keidel S, Chen L, Pointon J, Wordworth P. ERAP1 and ankylosing spondylitis. Curr Opin Immunol. 2013;25(1):97-102.
49. Uchanka-Ziegler B, Loll B, Fabian H, Hee CS, Saenger W, Zeigler A. HLA class I-associated diseases with a suspected autoimmune etiology: HLA-B27 subtypes as a model system. Eur J Cell Biol. 2012;91:274-86.
50. 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. 2013;10:1136.
51. • 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;190:3216-24. Cellular expression of non-classical forms of HLA-B27 may have pathogenetic function in ankylosing spondylitis.
52. Neerinckx B, Carter S, Lories RJ. Expression of unfolded protein response genes in synovium and blood mononuclear cells of HLA-B27 positive ankylosing spondylitis patients is not increased compared to other arthritis patients and healthy controls. Ann Rheum Dis. 2013;72:A75-6.
53. Ciccia F, Accardo-Palumbo A, Rizzo A, Guggino G, Raimondo S, Giardina A, Cannizzaro A, Colbert RA, Alessandro R, Triolo G. 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 June 5. [Epub ahead of print].
54. • Van Praet L, Van den Bosch F, Mielants H, Elewaut D. Mucosal inflammation in spondyloarthritis: past, present, and future. Curr Rheumatol Rep. 2011;13(5):409-15. An important review by the authors who first discovered a function for subclinical gut inflammation in spondyloarthritis, and discussion of its etiopathogenetic effect.
55. Kinross JM, Darzi AW, Nicholson JK. Gut microbiome-host interactions in health and disease. Genome Med. 2011;3(3):14.
56. Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature. 2012;491(7422):119-24.
57. Costello ME, Elewaut D, Kenna TJ, Brown MA. Microbe, the gut and ankylosing spondylitis. Arthritis Res Ther. 2013;15(3):214.
58. • Gracey E, Inman RD. Chlamydia induced ReA: Immune imbalances and persistent pathogens. Nat Rev Rheumatol. 2012;8:55-9. A good current review on the subject.
59. Jacques P, Van Praet L, Carron P, Van der Bosch F, Elewaut D. Pathophysiology and role of the gastrointestinal system in spondyloarthritides. Rheum Dis Clin North Am. 2012;38(3):569-82.
60. Appel H, Maier HR, Biel J, Hempfing A, Loddenkemper C, Schlichting U, et al. In situ analysis of interleukin-23- and interleukin-12-positive cells in the spine of patients with ankylosing spondylitis. Arthritis Rheum. 2013;65(6):1522-9.
61. Rosenbaum JT, Kim HW. Innate immune signals in autoimmune and autoinflammatory uveitis. Int Rev Immunol. 2013;32(1):68-75.
62. McHugh K, Bowness P. The link between HLA-B27 and SpA - new ideas on an old problem. Rheumatology (Oxford). 2012;51:1529-39.
63. Braem, K. Deroose CM, Luyten FP, Lories RJ. Inhibition of inflammation but not ankylosis by glucocorticoids in mice: further evidence for the entheseal stress hypothesis. Arthritis Res Ther. 2012;14(2):R59.
64. •• Sherlock JP, Joyce-Shaikh B, Turner SP, Chao CC, Sathe M, Grein J, et al. IL-23 induces spondyloarthropathy by acting on ROR-γt+ CD3+CD4-CD8- entheseal resident T cells. Nat Med. 2012;18(7):1069-76. IL-23 induces enthesitis prior to synovitis by acting on previously unidentified entheseal resident T cells that are IL-23R(+), (ROR-γt(+)CD3(+)CD4(-)CD8(- ), Sca1(+). These cells produce IL-22, which activates STAT3-dependent osteoblast-mediated bone remodeling.
65. Sherlock JP, Cua JP. Interleukin-23: a promising therapeutic target in seronegative spondyloarthropathy. Curr Opin Pharmacol. 2013;13(3):445-58.