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Could Single Nucleotide Polymorhphisms Help Diagnose Ankylosing Spondylitis Earlier?

by Dr. David Borenstein M.D. 10/21/2018

Spine Community News: At the Plenary session of the 2018 American College of Rheumatology Annual Meeting in Chicago, an article was presented describing the use of genetics to diagnose ankylosing spondylitis (AS) earlier in the course of the illness. A delay in diagnosing AS is quite common and may be several years before patients are correctly diagnosed because the symptom of back pain is easily attributed to more common mechanical causes of back pain like muscle spasm or herniated disc, and AS patients rarely visit a Rheumatologist who is more likely to make a correct diagnosis.

HLA-B27 is a genetic test associated with AS however a significant proportion of individuals with this genetic makeup do not have the disease. A more specific genetic test would be helpful in differentiating individuals who have AS from those who do not.

Single nucleotide polymorphisms (SNPs) are packets of genetic material that are associated with different illness. Authors presented genetic risk scores based on SNPs from Europe and East Asia. The European genetic risk was 92% versus HLA – B27 at 87%. The East Asian Cohort was more discriminating at 95%. This data suggests that diagnosis of AS could be done earlier and at less cost ($50.00) for SNP microarray analyses compared to the more expensive MRI.


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  1. Zhixiu L et al Genetic risk score prediction in ankylosing spondylitis [abstract 836] Arthritis Rheumatol 2018:70 (suppl 10)