Genetic risk scores may aid ankylosing spondylitis detection
medwireNews: Researchers have developed two polygenic risk scores to identify individuals at high risk for ankylosing spondylitis (AS).
Lead author Zhixiu Li (Queensland University of Technology, Brisbane, Australia) told delegates at the 2018 ACR/ARHP Annual Meeting in Chicago, Illinois, USA, that diagnosis of AS is “delayed on average by 8–10 years after the onset of symptoms,” suggesting that better methods for earlier detection are needed.
The researchers used microarray data from 7742 European and 6001 East Asian AS patients, along with 14,542 European and 4943 East Asian controls, to develop both a European and an East Asian polygenic risk score involving a corresponding 3947 and 8659 single nucleotide polymorphisms.
Li reported that the scores had “high discriminatory capacity,” correctly distinguishing AS patients from controls on 92% and 95% of occasions, respectively. She noted that the scores had better predictive performance than that previously reported for magnetic resonance imaging (MRI) and human leukocyte antigen-B27 status, and that microarray testing is associated with “far lower cost” than MRI.
The use of these scores “may allow identification of high risk groups for early intervention or prevention studies,” she concluded.
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