Human leucocyte antigen-B27 testing in clinical practice: a global perspective

Abstract

Purpose of reviewThe association between human leucocyte antigen (HLA)-B27 and spondyloarthritis (SpA) was described half a century ago. New insights about pathophysiologic pathways and their role in bone formation were reported in recent years and will be discussed in this review. Recent findingsThere is a considerable variation in the association between HLA-B27 and SpA across the globe, with the strongest association reported in populations of Northern European and Asian descent and the lowest in the Middle East and Africa. Other genes are also involved in disease susceptibility, highlighting the importance of newly proposed weighted genetic scores to support the diagnosis. On the global level, the interaction between genetic background and gut dysbiosis seems critical for disease predisposition. As for the individual patient, the presence of HLA-B27 can have a significant influence on SpA diagnosis and disease phenotype. More importantly, new studies suggested a role for HLA-B27 in radiographic damage in the sacroiliac joints and the progression of bone formation in the spine. SummaryFindings in recent years have enhanced our understanding of the role of HLA-B27 in the pathophysiology and in disease-related bone formation in SpA, which may pave the way for new therapeutic targets.

Haplotype Analysis Reveals Pleiotropic Disease Associations in the HLA Region

“…These canonical HLA association studies have provided countless biologically and clinically informative associations, for example, seronegative spondyloarthritis has been associated with the HLA-B27 allele family, Type 1 Diabetes with the HLA-DR3 allele family, and Rheumatoid arthritis with the HLA-DR4 allele family [28,29]. In addition to providing biological insight into disease mechanisms, these studies have resulted in the use of HLA allele associations in the clinical setting [30][31][32].…”