Evidence map›Paper›PMID 34161253›Full record

ArticleAnnals of the rheumatic diseases2021

Polygenic Risk Scores have high diagnostic capacity in ankylosing spondylitis.

Zhixiu Li, Xin Wu, Paul J Leo, Erika De Guzman, Nurullah Akkoc, Maxime Breban, Gary J Macfarlane, Mahdi Mahmoudi, Helena Marzo-Ortega, Lisa K Anderson and 32 more

Erratum issued Registry-linked trialOpen access · hybridAbstract read
In one paragraph

Article in Annals of the rheumatic diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT05539001 (Screening Biomarkers for Severe Lupus Based on Multi-omics Studies), which is not on this map. Cited by 51 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
51citing papers in PubMed, 4 pooled it
13.4field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT05539001 unknown statusnot on this mapstarted 2023, after this paper: background citation

Screening Biomarkers for Severe Lupus Based on Multi-omics Studies

Typeobservational_patient_registrySponsorThe Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical SchoolRan2023 to 2025Enrolled152ConditionsSystemic Lupus Erythematosus
3 · Its place in the literature

Who cites it

51 citing papers in PubMed, 4 syntheses or guidelines pooled it, 85 citations in OpenAlex.

  1. Pooled it
  2. Guideline
  3. Pooled it
  4. Pooled it
  5. Clinical implementation of polygenic risk scores.European journal of human genetics : EJHG · 2026
    Article
  6. Article
  7. Precision medicine in orthopaedics: A review of current technologies and future directions.Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA · 2026
    Review
  8. Review
  9. Review
  10. Global epidemiology of spondyloarthritis.Nature reviews. Rheumatology · 2025
    Review
  11. Article
  12. Review
  13. Article
  14. Review
  15. Fibroblasts in heterotopic ossification: mechanisms and therapeutic targets.International journal of biological sciences · 2025
    Review
  16. Review
  17. Genetic Risk Scores for the Clinical Rheumatologist.Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases · 2025
    Review
  18. Article
  19. Review
  20. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

42 authors at 20 institutions in 10 countries.

Zhixiu Li *Queensland University of Technology, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Faculty of Health, Translational Research Institute, Woolloongabba, Queensland, Australia.ORCID 0000-0002-2924-9120
Xin Wu *Department of Rheumatology and Immunology, Shanghai Changzheng Hospital, Second Military Medical University, Shanghai, Shanghai, China.
Paul J LeoQueensland University of Technology, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Faculty of Health, Translational Research Institute, Woolloongabba, Queensland, Australia.
Erika De GuzmanAustralian Translational Genomics Centre, Queensland University of Technology (QUT), Translational Research Institute, Woolloongabba, Queensland, Australia.
Nurullah AkkocDepartment of Internal Medicine, Division of Rheumatology, School of Medicine, Manisa Celal Bayar University, Manisa, Turkey.ORCID 0000-0002-3718-171X
Maxime BrebanUMR 1173, Inserm, University of Versailles Saint-Quentin, Montigny-le-Bretonneux, France.ORCID 0000-0002-6932-9395
Gary J MacfarlaneEpidemiology Group, Institute of Applied Health Sciences, School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Foresterhill, Aberdeen, UK.ORCID 0000-0003-2322-3314
Mahdi MahmoudiRheumatology Research Center, Tehran University of Medical Sciences, Tehran, Tehran, Iran (the Islamic Republic of).ORCID 0000-0002-8164-8831
Helena Marzo-OrtegaNIHR Leeds Biomedical Research Centre, Leeds Teaching Hospitals NHS Trust, Leeds, UK.ORCID 0000-0002-9683-3407
Lisa K AndersonAustralian Translational Genomics Centre, Queensland University of Technology (QUT), Translational Research Institute, Woolloongabba, Queensland, Australia.
Lawrie WheelerAustralian Translational Genomics Centre, Queensland University of Technology (QUT), Translational Research Institute, Woolloongabba, Queensland, Australia.
Chung-Tei ChouDivision of Allergy, Immunology, Rheumatology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
Andrew A HarrisonDepartment of Medicine, University of Otago Wellington, Wellington, New Zealand.ORCID 0000-0003-4372-3252
Simon StebbingsDepartment of Medicine, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.ORCID 0000-0002-2824-4440
Gareth T JonesEpidemiology Group, Institute of Applied Health Sciences, School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Foresterhill, Aberdeen, UK.ORCID 0000-0003-0016-7591
So-Young BangHanyang University Hospital for Rheumatic Diseases, Hanyang University, Seoul, Korea (the Republic of).
Geng WangUniversity of Queensland Diamantina Institute, University of Queensland, Brisbane, Queensland, Australia.
Ahmadreza JamshidiRheumatology Research Center, Tehran University of Medical Sciences, Tehran, Tehran, Iran (the Islamic Republic of).
Elham FarhadiRheumatology Research Center, Tehran University of Medical Sciences, Tehran, Tehran, Iran (the Islamic Republic of).
Jing SongDepartment of Rheumatology and Immunology, Shanghai Changzheng Hospital, Second Military Medical University, Shanghai, Shanghai, China.
Li LinDepartment of Rheumatology and Immunology, Shanghai Changzheng Hospital, Second Military Medical University, Shanghai, Shanghai, China.
Mengmeng LiDepartment of Rheumatology and Immunology, Shanghai Changzheng Hospital, Second Military Medical University, Shanghai, Shanghai, China.
James Cheng-Chung WeiInstitute of Medicine, Chung Shan Medical University, Taichung, Taiwan.ORCID 0000-0003-0310-2769
Nicholas G MartinQIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.
Margaret J WrightQueensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia.
MinJae LeePopulation & Data Sciences, University of Texas Southwestern Medical Center, Dallas, Texas, USA.ORCID 0000-0002-4329-506X
Yuqin WangState Key Laboratory of Optometry, Ophthalmology, and Vision Science, Affiliated Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Jian ZhanInstitute for Glycomics, Griffith University, Nathan, Queensland, Australia.
Jin-San ZhangCenter for Precision Medicine, First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Xiaobing WangRheumatology Department, First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.ORCID 0000-0002-4302-2213
Zi-Bing JinBeijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, Beijing, China.ORCID 0000-0003-0515-698X
Michael H WeismanDepartment of Medicine/Rheumatology, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Lianne S GenslerDivision of Medicine/Rheumatology, University of California San Francisco, San Francisco, California, USA.
Michael M WardIntramural Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0003-1857-9367
Mohammad Hossein RahbarInternal Medicine, The University of Texas Health Science Center at Houston John P and Katherine G McGovern Medical School, Houston, Texas, USA.
Laura DiekmanDepartment of Internal Medicine, Division of Rheumatology, McGovern Medical School at The University of Texas Health Science Center, Houston, Texas, USA.
Tae-Hwan KimHanyang University Hospital for Rheumatic Diseases, Hanyang University, Seoul, Korea (the Republic of).ORCID 0000-0002-3542-2276
John D ReveilleDepartment of Internal Medicine, Division of Rheumatology, McGovern Medical School at The University of Texas Health Science Center, Houston, Texas, USA.ORCID 0000-0001-5950-0913
Bryan Paul WordsworthNIHR Oxford Musculoskeletal Biomedical Research Unit, Botnar Research Centre, University of Oxford, Oxford, Oxfordshire, UK.ORCID 0000-0001-7512-3468
Huji Xu *Department of Rheumatology and Immunology, Shanghai Changzheng Hospital, Second Military Medical University, Shanghai, Shanghai, China matt.brown@kcl.ac.uk xuhuji@smmu.edu.cn.ORCID 0000-0002-8588-118X
Matthew A Brown *Center for Precision Medicine, First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China matt.brown@kcl.ac.uk xuhuji@smmu.edu.cn.ORCID 0000-0003-0538-8211
TCRI AS Group
Second Military Medical University · CNTranslational Research Institute · AUWenzhou Medical University · CNTehran University of Medical Sciences · IRThe University of Texas Health Science Center at Houston · USHanyang University Seoul Hospital · KRThe University of Queensland · AUUniversity of Aberdeen · GBUniversity of Otago · NZBeijing Tongren Hospital · CNCedars-Sinai Medical Center · USChina Medical University · TWGriffith University · AUInserm · FRKing's College London · GBManisa Celal Bayar University · TRNational Institutes of Health · USNational Yang Ming Chiao Tung University · TWQIMR Berghofer Medical Research Institute · AUThe University of Texas Southwestern Medical Center · US

Funding

ZONA-FREE HAMSTER OVA ASSAY AS AN INDICATOR OF MALE FERTILITYM01RR000425 · NCRR · LUNDQUIST INSTITUTE FOR BIOMEDICAL INNOVATION AT HARBOR-UCLA MEDICAL CENTER · PI ANDERSON, GAIL V · 1985 to 2011
$74.2M
FAMILY STUDIES OF THE GENETICS OF ANKYLOSING SPONDYLITISR01AR046208 · NIAMS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI REVEILLE, JOHN DUFFIN · 1999 to 2003
$4.2M
Arthritis Research UK 18797Arthritis Research UK 19536Intramural NIH HHS Z99 AR999999NCRR NIH HHS M01 RR000425NIAMS NIH HHS R01 AR046208Wellcome Trust 076113
6 · The paper itself

Abstract

objectiveWe 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.

methodsPRSs 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),

resultsIn 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

conclusionsPRS have higher discriminatory capacity for AS than CRP, sacroiliac MRI or

Indexed as

Multifactorial InheritanceAdultAsian PeopleBack PainCase-Control StudiesChronic PainC-Reactive ProteinFemaleHLA-B27 AntigenHumansMagnetic Resonance ImagingMaleReproducibility of ResultsRisk FactorsSacroiliac JointSpondylitis, AnkylosingC-Reactive ProteinHLA-B27 Antigenankylosinggeneticlow back painmagnetic resonance imagingpolymorphismspondylitis

Identifiers

PMID34161253
PMCPMC8364478
OpenAlexW3156824278

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.