The Ramifications of HLA-B27

Abstract

Thirty years after its discovery, 1,2 the association between HLA-B27 and ankylosing spondylitis remains the strongest known relationship between a major histocompatibility complex (MHC) antigen and a disease. Epidemiological studies in the 1960s and early 1970s identified close links between several distinct forms of arthritis that were given the collective title of the seronegative spondarthritides. 3 Recognition that HLA-B27 was a genetic marker for these diseases led to a review of the composition of the group, resulting in the exclusion of Whipple's disease and Behçet's syndrome and the inclusion of other conditions such as undifferentiated and formes frustes of spondarthritis 4 and HLA-B27 associated isolated peripheral enthesitis. 5 Notwithstanding a 28-44% prevalence of HLA-B27 in affected patients, Whipple's disease was excluded after being found to be caused by the actinobacterium Tropheryma whipplei, 6 whilst Behçet's syndrome forfeited its place for many reasons including a lack of association with HLA-B27. 7 Box 1 lists the seronegative spondarthritides currently recognized-now more commonly known as the seronegative spondylarthropathies or spondyloarthropathies.

Immunogenetics of type 1 diabetes: A comprehensive review

“…The method selected for a given study depends on the intended use of the data. For example, full sequencing of HLA-B to support a diagnosis of ankylosing spondylitis would not be cost-effective when a simple clinical test for HLA-B*27 could be used [21]. On the other hand, the severe drug hypersensitivity to the nucleoside reverse transcriptase inhibitor abacavir exhibited by HIV patients carrying HLA-B*57:01 is not seen in patients carrying HLA-B*57:03, underscoring the need for at least two-field resolution of HLA genotyping for treatment decisions for HIV positive patients [22].…”

Ankylosing Spondylitis, HLA-B27 and Klebsiella - An Overview: Proposal for Early Diagnosis and Treatment

“…There are at least twenty-five different subtypes of HLA-B27 that have been identified, and B*2705 is the ancestral subtype from which the others have evolved [10]. Studies of the HLA-B27 molecule by two-dimensional gel electrophoresis [11] DNA sequencing [12] and restriction fragment length polymorphism [13] have all shown no molecular differences in this genetic marker between patients with AS and healthy controls.…”

Cost-effective use of investigations in developing countries

“…HLA-B27-positive individuals have a relative risk of AS near 90% [58]. For these reasons, HLA-B27 has now been included in the recent Assessment of Spondyloarthritis International Society (ASAS) classification criteria for SpA [56]. Thus, a common scenario is where the presence of HLA-B27 is equated with the diagnosis of AS.…”