HLA-B27 and the seronegative spondyloarthropathies.
In the 25 years since the initial reports of the association of HLA-B27 with ankylosing spondylitis (AS) and subsequently with Reiter's syndrome, psoriatic spondylitis, and the spondylitis of inflammatory bowel disease, the association of HLA-B27 with the seronegative spondyloarthropathies has remained one of the best examples of a disease association with a hereditary marker. HLA-B27 has been recognized as representative of a spectrum of diseases, ranging from the majority of HLA-B27-positive individuals who have no disease at all, through those with isolated eye or skin involvement, to those with critical eye, heart, and peripheral joint compromise of full-blown AS. Yet HLA polymorphism has evolved in response to environmental stresses, and even the presence of HLA-B27 itself appears to confer advantages in certain infectious diseases, such as acquired immune deficiency syndrome (AIDS). This article will review what is currently known about HLA-B27 and disease, especially in the seronegative spondyloarthropathies. The structure-function relationship of HLA-B27 will be presented, including differences between the B27 subtypes both in their ethnic variation and possible disease implications. The disease spectrum conferred by the presence of HLA-B27 will also be discussed, and the theories of how HLA-B27 contributes to the pathogenesis of the spondyloarthropathies will be considered.
Division of Rheumatology and Clinical Immunogenetics, The University of Texas at Houston Health Science Center, 77225, USA. jreveill@heart.med.uth.tmc.edu
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JD
Reveille
D000595:Amino Acid Sequence; D016918:Arthritis, Reactive / Q000097:blood / Q000276:immunology*; D014943:Global Health; D015796:HLA-B27 Antigen / Q000097:blood* / Q000737:chemistry / Q000235:genetics; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000097:blood / Q000276:immunology; D008958:Models, Molecular; D008969:Molecular Sequence Data; D017433:Protein Structure, Secondary; D011565:Psoriasis / Q000097:blood / Q000276:immunology; D016415:Sequence Alignment; D013166:Spondylitis / Q000097:blood / Q000276:immunology*; D013167:Spondylitis, Ankylosing / Q000097:blood / Q000276:immunology*
D015796:HLA-B27 Antigen