Remarkable polymorphism of HLA-B27: an ongoing saga

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.