HLA-B27 and related genes in the aetiopathogenesis of ankylosing spondylitis

It is well established that there is a very strong association between the MHC class I transplantation antigen HLA-B27 and the inflammatory disease ankylosing spondylitis (AS). It is unclear if HLA-B27 is directly involved in the development of AS or if it is linkage disequilibrium with another gene and HLA-B27 is a marker for this true disease gene. Restriction fragment length polymorphism (RFLP) analysis was used to examine whether a particular variant of the HLA-B27 gene is associated with the disease in English and Polish populations. Using a probe from the 5' region of a HLA-B27 gene, a 14Kbp PvuII fragment was found that was more common in English HLA-B27+AS+ than HLA-B27+AS-subjects (p<0.01) suggesting an involvement for this fragment in disease development. A PvuII fragment of 8.9Kbp was identified in more English HLA-B27+AS- than HLA- B27+AS+ subjects (p