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Genomics Ophthalmology

Spondyloarthritides (SpA) are a group of inflammatory rheumatic diseases, characterized by inflammation of the spine, joints, eyes, skin and gastrointestinal tract, estimated to affect 0.6–1% of the population. The group includes Ankylosing spondylitis (AS), Reactive arthritis, Psoriatic spondyloarthritis, Inflammatory Bowel Disease and Acute anterior uveitis. The human leukocyte antigen-B27 (HLA-B27) is strongly associated with development of SpA, especially with AS, and has been established as a biomarker for SpA. Studies have shown that about 90% of people with Spondyloarthritis are HLA-B27 positive, but HLA-B27 can also be detected in around 9% of healthy individuals, indicating that additional genetic and environmental factors, many currently unknown, affect the development of the disorder (Bowness P. HLA-B27. Annu Rev Immunol. 2015;33:29-48).

HLA-B27 testing is performed by a real-time Taqman PCR (Roelandse-Koop EA et al 2011 Clin Chem Lab Med 49, 1979-1985). This test is designed to detect the presence of HLA-B27 alleles with high sensitivity and specificity for the Caucasian population.

The laboratory participates in the UKNEQAS for Histocompatibility & Immunogenetics scheme for HLA-B27 testing.

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