Genetic Risk Score May Lead to Earlier Ankylosing Spondylitis Diagnosis

DNA in petri dish
DNA in petri dish
The genetic risk score may have lower costs than current testing methods.

The following article is part of conference coverage from the 2018 American College of Rheumatology and Association of Rheumatology Health Professionals (ACR/ARHP) Annual Meeting in Chicago, Illinois. Rheumatology Advisor’s staff will be reporting breaking news associated with research conducted by leading experts in rheumatology. Check back for the latest news from ACR/ARHP 2018 .

CHICAGO — A genetic risk score may be clinically useful for the early diagnosis of ankylosing spondylitis (AS), and incurs lower costs than current testing methods, according to data presented at the 2018 ACR/ARHP Annual Meeting, held October 19-24, in Chicago, Illinois.1

Researchers from the Queensland University of Technology in Australia examined 2 genetic risk score models to determine its utility as an early diagnostic tool in AS. The first model was based on European descent samples, including 7742 patients with AS and 14,542 control patients. The second used East Asian descent samples, including 6001 patients with AS and 4943 control patients. Each profile included thousands of genetic variants.

The performance of the risk score was confirmed in European and East Asian populations, and in Turkish and Iranian cohorts. Investigators tested discriminatory capacity by receiver operating characteristic analysis, reported as area under the curve (AUC).

In the European risk score model, the AUC was 0.92, with 83% sensitivity and 92% specificity, compared with 0.87 using HLA-B27 status alone. In the East Asian risk score model, the AUC was 0.95, with 91% sensitivity and 95% specificity. Both models demonstrated moderate discriminatory capacity in the other ethnic groups (AUC, 0.85). Results were similar to the AUC for MRI imaging for patients with AS (AUC, 0.9).

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“Our findings show that [a genetic risk score] has high discriminatory capacity and could be of clinical utility in early diagnosis at lower cost than MRI,” stated coauthor Zhixiu Li, PhD, research fellow, Queensland University of Technology Institute of Health and Biomedical Innovation. “In addition, AS [genetic risk score] could also be applied to identify individuals with high risk of developing AS before major symptoms appear. It could also be applied to patients with arthritic symptoms, but without a clear diagnosis.”2

“We think we can improve the [genetic risk score] further, and are working on optimizing it using different statistical approaches,” Dr Li added. “We also are looking at how [genetic risk score] performs when combined with other clinical features or test results to further improve the power of detecting AS patients. Even without these improvements, this test performs significantly better than the current genetic test used for AS, typing HLA-B27, yet it has a very similar cost. Therefore, I think it should be applied in the clinic now.”2

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  1. Li Z, De Guzman E, Harris J, et al. Genetic risk score prediction in ankylosing spondylitis. Presented at: ACR/ARHP 2018 Annual Meeting; October 19-24, 2018; Chicago, IL. Abstract 836.
  2. Genetic risk score may identify ankylosing spondylitis earlier [news release]. Chicago, IL: American College of Rheumatology. Published October 20, 2018. Accessed October 20, 2018.

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