Polygenic Risk Scores have high diagnostic capacity in ankylosing spondylitis

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dc.contributor.authorLi Z.
dc.contributor.authorWu X.
dc.contributor.authorLeo P.J.
dc.contributor.authorDe Guzman E.
dc.contributor.authorAkkoc N.
dc.contributor.authorBreban M.
dc.contributor.authorMacFarlane G.J.
dc.contributor.authorMahmoudi M.
dc.contributor.authorMarzo-Ortega H.
dc.contributor.authorAnderson L.K.
dc.contributor.authorWheeler L.
dc.contributor.authorChou C.-T.
dc.contributor.authorHarrison A.A.
dc.contributor.authorStebbings S.
dc.contributor.authorJones G.T.
dc.contributor.authorBang S.-Y.
dc.contributor.authorWang G.
dc.contributor.authorJamshidi A.
dc.contributor.authorFarhadi E.
dc.contributor.authorSong J.
dc.contributor.authorLin L.
dc.contributor.authorLi M.
dc.contributor.authorWei J.C.-C.
dc.contributor.authorMartin N.G.
dc.contributor.authorWright M.J.
dc.contributor.authorLee M.
dc.contributor.authorWang Y.
dc.contributor.authorZhan J.
dc.contributor.authorZhang J.-S.
dc.contributor.authorWang X.
dc.contributor.authorJin Z.-B.
dc.contributor.authorWeisman M.H.
dc.contributor.authorGensler L.S.
dc.contributor.authorWard M.M.
dc.contributor.authorRahbar M.H.
dc.contributor.authorDiekman L.
dc.contributor.authorKim T.-H.
dc.contributor.authorReveille J.D.
dc.contributor.authorWordsworth B.P.
dc.contributor.authorXu H.
dc.contributor.authorBrown M.A.
dc.date.accessioned2024-07-22T08:05:36Z
dc.date.available2024-07-22T08:05:36Z
dc.date.issued2021
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. © Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
dc.identifier.DOI-ID10.1136/annrheumdis-2020-219446
dc.identifier.issn00034967
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/13188
dc.language.isoEnglish
dc.publisherBMJ Publishing Group
dc.rightsAll Open Access; Hybrid Gold Open Access
dc.subjectAdult
dc.subjectAsian Continental Ancestry Group
dc.subjectBack Pain
dc.subjectC-Reactive Protein
dc.subjectCase-Control Studies
dc.subjectChronic Pain
dc.subjectEuropean Continental Ancestry Group
dc.subjectFemale
dc.subjectHLA-B27 Antigen
dc.subjectHumans
dc.subjectMagnetic Resonance Imaging
dc.subjectMale
dc.subjectMultifactorial Inheritance
dc.subjectReproducibility of Results
dc.subjectRisk Factors
dc.subjectSacroiliac Joint
dc.subjectSpondylitis, Ankylosing
dc.subjectC reactive protein
dc.subjectHLA B27 antigen
dc.subjectC reactive protein
dc.subjectHLA B27 antigen
dc.subjectadult
dc.subjectage
dc.subjectankylosing spondylitis
dc.subjectArticle
dc.subjectbackache
dc.subjectchronic pain
dc.subjectcohort analysis
dc.subjectcommunity
dc.subjectcontrolled study
dc.subjectdiagnostic test
dc.subjectdiscriminant analysis
dc.subjectdisease classification
dc.subjectEast Asian
dc.subjectEuropean
dc.subjectfemale
dc.subjectgenetic risk score
dc.subjectgenome-wide association study
dc.subjecthuman
dc.subjecthypothesis
dc.subjectintermethod comparison
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectmicroarray analysis
dc.subjectNew York criteria
dc.subjectnuclear magnetic resonance imaging
dc.subjectpredictive value
dc.subjectprobability
dc.subjectprotein blood level
dc.subjectreceiver operating characteristic
dc.subjectsacroiliac joint
dc.subjectsingle nucleotide polymorphism
dc.subjectspine radiography
dc.subjectvalidation study
dc.subjectankylosing spondylitis
dc.subjectAsian continental ancestry group
dc.subjectbackache
dc.subjectcase control study
dc.subjectCaucasian
dc.subjectchronic pain
dc.subjectdiagnostic imaging
dc.subjectgenetics
dc.subjectmetabolism
dc.subjectmultifactorial inheritance
dc.subjectreproducibility
dc.subjectrisk factor
dc.titlePolygenic Risk Scores have high diagnostic capacity in ankylosing spondylitis
dc.typeArticle

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