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dc.contributor.authorLi, Z
dc.contributor.authorWu, X
dc.contributor.authorLeo, PJ
dc.contributor.authorDe Guzman, E
dc.contributor.authorAkkoc, N
dc.contributor.authorBreban, M
dc.contributor.authorMacFarlane, GJ
dc.contributor.authorMahmoudi, M
dc.contributor.authorMarzo-Ortega, H
dc.contributor.authorAnderson, LK
dc.contributor.authorWheeler, L
dc.contributor.authorChou, CT
dc.contributor.authorHarrison, AA
dc.contributor.authorZhan, J
dc.contributor.authoret al.
dc.date.accessioned2021-07-08T03:41:50Z
dc.date.available2021-07-08T03:41:50Z
dc.date.issued2021
dc.identifier.issn0003-4967
dc.identifier.doi10.1136/annrheumdis-2020-219446
dc.identifier.urihttp://hdl.handle.net/10072/405826
dc.description.abstractObjective: We sought to test the hypothesis that Polygenic Risk Scores (PRSs) have strong capacity to discriminate cases of ankylosing spondylitis (AS) from healthy controls and individuals in the community with chronic back pain. Methods: PRSs were developed and validated in individuals of European and East Asian ethnicity, using data from genome-wide association studies in 15 585 AS cases and 20 452 controls. The discriminatory values of PRSs in these populations were compared with other widely used diagnostic tests, including C-reactive protein (CRP), HLA-B27 and sacroiliac MRI. Results: In people of European descent, PRS had high discriminatory capacity with area under the curve (AUC) in receiver operator characteristic analysis of 0.924. This was significantly better than for HLA-B27 testing alone (AUC=0.869), MRI (AUC=0.885) or C-reactive protein (AUC=0.700). PRS developed and validated in individuals of East Asian descent performed similarly (AUC=0.948). Assuming a prior probability of AS of 10% such as in patients with chronic back pain under 45 years of age, compared with HLA-B27 testing alone, PRS provides higher positive values for 35% of patients and negative predictive values for 67.5% of patients. For PRS, in people of European descent, the maximum positive predictive value was 78.2% and negative predictive value was 100%, whereas for HLA-B27, these values were 51.9% and 97.9%, respectively. Conclusions: PRS have higher discriminatory capacity for AS 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.
dc.description.peerreviewedYes
dc.languageeng
dc.publisherBMJ
dc.relation.ispartofjournalAnnals of the Rheumatic Diseases
dc.subject.fieldofresearchClinical sciences
dc.subject.fieldofresearchImmunology
dc.subject.fieldofresearchHealth services and systems
dc.subject.fieldofresearchPublic health
dc.subject.fieldofresearchcode3202
dc.subject.fieldofresearchcode3204
dc.subject.fieldofresearchcode4203
dc.subject.fieldofresearchcode4206
dc.subject.keywordsankylosing
dc.subject.keywordsgenetic
dc.subject.keywordslow back pain
dc.subject.keywordsmagnetic resonance imaging
dc.subject.keywordspolymorphism
dc.titlePolygenic Risk Scores have high diagnostic capacity in ankylosing spondylitis
dc.typeJournal article
dc.type.descriptionC1 - Articles
dcterms.bibliographicCitationLi, Z; Wu, X; Leo, PJ; De Guzman, E; Akkoc, N; Breban, M; MacFarlane, GJ; Mahmoudi, M; Marzo-Ortega, H; Anderson, LK; Wheeler, L; Chou, CT; Harrison, AA; Zhan, J; et al., Polygenic Risk Scores have high diagnostic capacity in ankylosing spondylitis, Annals of the Rheumatic Diseases, 2021
dcterms.dateAccepted2021-03-29
dc.date.updated2021-07-08T03:37:08Z
gro.description.notepublicThis publication has been entered as an advanced online version in Griffith Research Online.
gro.hasfulltextNo Full Text
gro.griffith.authorZhan, Jian


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