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Polygenic risk scores have high diagnostic capacity in ankylosing spondylitis

Annals of Rheumatic Diseases Apr 24, 2021

Li Z, Wu X, Leo PJ, et al. - This study was intended to assess the hypothesis that Polygenic Risk Scores (PRSs) have a strong capacity to discriminate cases of ankylosing spondylitis (AS) from healthy controls and individuals in the community with chronic back pain. Using data from genome-wide association studies in 15,585 AS cases and 20,452 controls, PRSs were developed and validated in individuals of European and East Asian ethnicity. Researchers compared discriminatory values of PRSs in these populations with other widely used diagnostic tests, including C-reactive protein (CRP), HLA-B27, and sacroiliac MRI. The results demonstrate that for AS, PRS has a higher discriminatory capacity than CRP, sacroiliac MRI or HLA-B27 status alone. For optimal performance, PRS should be developed for use in the specific ethnic groups to which they are to be applied.

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