Remarkable Polymorphism of HLA-B27: an Ongoing Saga

Overview

Journal Curr Rheumatol Rep

Publisher Current Science

Specialty Rheumatology

Date 2010 Aug 5

PMID 20683684

Citations 8

Authors

Muhammad Asim Khan

Affiliations

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Abstract

Histocompatibility antigen HLA-B27 is a normal gene that is distributed worldwide with variable prevalence and shows a remarkable association with ankylosing spondylitis and related spondyloarthropathies. The precise biological explanation for this remarkable association remains elusive. HLA-B27 represents a family of closely related proteins encoded by an ever-increasing number of alleles; there are 75 alleles of HLA-B27 known thus far, based on nucleotide sequence differences, but at the translated protein level, there are 62 known subtypes of HLA-B27. Not all subtypes are disease associated. Moreover, existence of a possible hierarchical ranking among some of the subtypes for their disease association has been observed.

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References

Khan M . HLA-B27 and its pathogenic role. J Clin Rheumatol. 2008; 14(1):50-2. DOI: 10.1097/RHU.0b013e3181637a38. View

Francois R, Braun J, Khan M . Entheses and enthesitis: a histopathologic review and relevance to spondyloarthritides. Curr Opin Rheumatol. 2001; 13(4):255-64. DOI: 10.1097/00002281-200107000-00003. View

Schlosstein L, Terasaki P, Bluestone R, Pearson C . High association of an HL-A antigen, W27, with ankylosing spondylitis. N Engl J Med. 1973; 288(14):704-6. DOI: 10.1056/NEJM197304052881403. View

Reveille J, Maganti R . Subtypes of HLA-B27: history and implications in the pathogenesis of ankylosing spondylitis. Adv Exp Med Biol. 2009; 649:159-76. DOI: 10.1007/978-1-4419-0298-6_12. View

Brown M, Jepson A, Young A, Whittle H, Greenwood B, Wordsworth B . Ankylosing spondylitis in West Africans--evidence for a non-HLA-B27 protective effect. Ann Rheum Dis. 1997; 56(1):68-70. PMC: 1752251. DOI: 10.1136/ard.56.1.68. View

Stone M, Payne U, Schentag C, Rahman P, Pacheco-Tena C, Inman R . Comparative immune responses to candidate arthritogenic bacteria do not confirm a dominant role for Klebsiella pneumonia in the pathogenesis of familial ankylosing spondylitis. Rheumatology (Oxford). 2003; 43(2):148-55. DOI: 10.1093/rheumatology/keg482. View

Khan M . Update: the twenty subtypes of HLA-B27. Curr Opin Rheumatol. 2000; 12(4):235-8. DOI: 10.1097/00002281-200007000-00001. View

Liu X, Hu L, Li Y, Chen F, Ning Y, Yao Q . The association of HLA-B*27 subtypes with ankylosing spondylitis in Wuhan population of China. Rheumatol Int. 2009; 30(5):587-90. DOI: 10.1007/s00296-009-1018-0. View

Taurog J . The mystery of HLA-B27: if it isn't one thing, it's another. Arthritis Rheum. 2007; 56(8):2478-81. DOI: 10.1002/art.22807. View

10.

Lopez-Larrea C, Mijiyawa M, Gonzalez S, Blanco-Gelaz M, Martinez-Borra J, Lopez-Vazquez A . Association of ankylosing spondylitis with HLA-B*1403 in a West African population. Arthritis Rheum. 2002; 46(11):2968-71. DOI: 10.1002/art.10584. View

11.

Thorsby E . HL-A antigens and genes. I. A study of unrelated Norwegians. Vox Sang. 1969; 17(2):81-92. DOI: 10.1111/j.1423-0410.1969.tb00377.x. View

12.

Tam L, Gu J, Yu D . Pathogenesis of ankylosing spondylitis. Nat Rev Rheumatol. 2010; 6(7):399-405. DOI: 10.1038/nrrheum.2010.79. View

13.

Cragnolini J, Garcia-Medel N, Lopez de Castro J . Endogenous processing and presentation of T-cell epitopes from Chlamydia trachomatis with relevance in HLA-B27-associated reactive arthritis. Mol Cell Proteomics. 2009; 8(8):1850-9. PMC: 2722781. DOI: 10.1074/mcp.M900107-MCP200. View

14.

Feldtkeller E, Khan M, van der Heijde D, van der Linden S, Braun J . Age at disease onset and diagnosis delay in HLA-B27 negative vs. positive patients with ankylosing spondylitis. Rheumatol Int. 2003; 23(2):61-6. DOI: 10.1007/s00296-002-0237-4. View

15.

Diaz-Pena R, Blanco-Gelaz M, Njobvu P, Lopez-Vazquez A, Suarez-Alvarez B, Lopez-Larrea C . Influence of HLA-B*5703 and HLA-B*1403 on susceptibility to spondyloarthropathies in the Zambian population. J Rheumatol. 2008; 35(11):2236-40. DOI: 10.3899/jrheum.080395. View

16.

Carter J, Gerard H, Espinoza L, Ricca L, Valeriano J, Snelgrove J . Chlamydiae as etiologic agents in chronic undifferentiated spondylarthritis. Arthritis Rheum. 2009; 60(5):1311-6. PMC: 2757404. DOI: 10.1002/art.24431. View

17.

Kim T, Na K, Lee H, Lee B, Kim T . HLA-B27 homozygosity has no influence on clinical manifestations and functional disability in ankylosing spondylitis. Clin Exp Rheumatol. 2009; 27(4):574-9. View

18.

Thomas G, Brown M . Genetics and genomics of ankylosing spondylitis. Immunol Rev. 2010; 233(1):162-80. DOI: 10.1111/j.0105-2896.2009.00852.x. View

19.

Jaakkola E, Herzberg I, Laiho K, Barnardo M, Pointon J, Kauppi M . Finnish HLA studies confirm the increased risk conferred by HLA-B27 homozygosity in ankylosing spondylitis. Ann Rheum Dis. 2005; 65(6):775-80. PMC: 1798178. DOI: 10.1136/ard.2005.041103. View

20.

BREWERTON D, Hart F, Nicholls A, Caffrey M, James D, Sturrock R . Ankylosing spondylitis and HL-A 27. Lancet. 1973; 1(7809):904-7. DOI: 10.1016/s0140-6736(73)91360-3. View