Polygenic Risk Scores Have High Diagnostic Capacity in Ankylosing Spondylitis

Polygenic Risk Scores Have High Diagnostic Capacity in Ankylosing Spondylitis Publisher Pubmed

Li Z¹ ; Wu X² ; Leo PJ¹ ; De Guzman E³ ; Akkoc N⁴ ; Breban M^{5, 6, 7} ; Macfarlane GJ^{8, 9} ; Mahmoudi M¹⁰ ; Marzoortega H^{11, 12} ; Anderson LK³ ; Wheeler L³ ; Chou CT^{13, 14} ; Harrison AA¹⁵ ; Stebbings S¹⁶ Show All Authors

Li Z¹
Wu X²
Leo PJ¹
De Guzman E³
Akkoc N⁴
Breban M^{5, 6, 7}
Macfarlane GJ^{8, 9}
Mahmoudi M¹⁰
Marzoortega H^{11, 12}
Anderson LK³
Wheeler L³
Chou CT^{13, 14}
Harrison AA¹⁵
Stebbings S¹⁶
Jones GT^{8, 9}
Bang SY¹⁷
Wang G¹⁸
Jamshidi A¹⁰
Farhadi E¹⁰
Song J²
Lin L²
Li M²
Wei JCC^{19, 20, 21}
Martin NG²²
Wright MJ²³
Lee M²⁴
Wang Y²⁵
Zhan J²⁶
Zhang JS^{27, 28}
Wang X²⁹
Jin ZB³⁰
Weisman MH³¹
Gensler LS³²
Ward MM³³
Rahbar MH³⁴
Diekman L³⁵
Kim TH¹⁷
Reveille JD³⁵
Wordsworth BP³⁶
Xu H^{2, 37, 38}
Brown MA^{27, 39}

Show Affiliations

1. Queensland University of Technology, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Faculty of Health, Translational Research Institute, Woolloongabba, QLD, Australia
2. Department of Rheumatology and Immunology, Shanghai Changzheng Hospital, Second Military Medical University, Shanghai, Shanghai, China
3. Australian Translational Genomics Centre, Queensland University of Technology (QUT), Translational Research Institute, Woolloongabba, QLD, Australia
4. Department of Internal Medicine, Division of Rheumatology, School of Medicine, Manisa Celal Bayar University, Manisa, Turkey
5. Umr 1173, Inserm, University of Versailles Saint-Quentin, Montigny-le-Bretonneux, France
6. Service de Rhumatologie, Hopital Ambroise Pare, Assistance Publique-Hopitaux de Paris, Boulogne-Billancourt, France
7. Laboratoire d'Excellence Inflamex, Universite Paris Diderot, Sorbonne Paris Cite, Paris, France
8. Epidemiology Group, Institute of Applied Health Sciences, School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Foresterhill, Aberdeen, United Kingdom
9. Aberdeen Centre for Arthritis and Musculoskeletal Health, University of Aberdeen, Foresterhill, Aberdeen, United Kingdom
10. Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Tehran, Iran
11. Nihr Leeds Biomedical Research Centre, Leeds Teaching Hospitals Nhs Trust, Leeds, United Kingdom
12. Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds, United Kingdom
13. Division of Allergy Immunology, Rheumatology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan
14. School of Medicine, National Yang-Ming University, Taipei, Taiwan
15. Department of Medicine, University of Otago Wellington, Wellington, New Zealand
16. Department of Medicine, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
17. Hanyang University Hospital for Rheumatic Diseases, Hanyang University, Seoul, South Korea
18. University of Queensland Diamantina Institute, University of Queensland, Brisbane, QLD, Australia
19. Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan
20. Department of Medicine, Chung Shan Medical University, Taichung, Taiwan
21. Graduate Institute of Integrated Medicine, China Medical University, Taichung, Taiwan
22. Qimr Berghofer Medical Research Institute, Herston, QLD, Australia
23. Queensland Brain Institute, University of Queensland, Brisbane, QLD, Australia
24. Population and Data Sciences, University of Texas Southwestern Medical Center, Dallas, TX, United States
25. State Key Laboratory of Optometry Ophthalmology, and Vision Science, Affiliated Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China
26. Institute for Glycomics, Griffith University, Nathan, QLD, Australia
27. Center for Precision Medicine, First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China
28. Institute of Life Sciences, Wenzhou University, Wenzhou, Zhejiang, China
29. Rheumatology Department, First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China
30. Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Lab, Beijing, Beijing, China
31. Department of Medicine/Rheumatology, Cedars-Sinai Medical Center, Los Angeles, CA, United States
32. Division of Medicine/Rheumatology, University of California San Francisco, San Francisco, CA, United States
33. Intramural Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, United States
34. Internal Medicine, The University of Texas Health Science Center at Houston John P, Katherine G McGovern Medical School, Houston, TX, United States
35. Department of Internal Medicine, Division of Rheumatology, McGovern Medical School, The University of Texas Health Science Center, Houston, TX, United States
36. Nihr Oxford Musculoskeletal Biomedical Research Unit, Botnar Research Centre, University of Oxford, Oxfordshire, Oxford, United Kingdom
37. School of Clinical Medicine, Tsinghua University Beijing, Beijing, China
38. Peking-Tsinghua Center for Life Sciences, Tsinghua University, Beijing, China
39. Nihr Biomedical Research Centre at Guy's, Saint Thomas' Nhs Foundation Trust and King's College London, London, United Kingdom

Source: Annals of the Rheumatic Diseases Published:2021

Abstract

Objective 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.

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Ahmad Reza Jamshidi (5)

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Style	Citing Format
MLA	Li Z, et al.. "Polygenic Risk Scores Have High Diagnostic Capacity in Ankylosing Spondylitis." Annals of the Rheumatic Diseases, vol. 80, no. 9, 2021, pp. 1168-1174.
APA	Li Z, Wu X, Leo PJ, De Guzman E, Akkoc N, Breban M, Macfarlane GJ, Mahmoudi M, Marzoortega H, Anderson LK, Wheeler L, Chou CT, Harrison AA, Stebbings S, Jones GT, Bang SY, Wang G, Jamshidi A, Farhadi E, ... Brown MA (2021). Polygenic Risk Scores Have High Diagnostic Capacity in Ankylosing Spondylitis. Annals of the Rheumatic Diseases, 80(9), 1168-1174.
Chicago	Li Z, Wu X, Leo PJ, De Guzman E, Akkoc N, Breban M, Macfarlane GJ, et al.. "Polygenic Risk Scores Have High Diagnostic Capacity in Ankylosing Spondylitis." Annals of the Rheumatic Diseases 80, no. 9 (2021): 1168-1174.
Harvard	Li Z et al. (2021) 'Polygenic Risk Scores Have High Diagnostic Capacity in Ankylosing Spondylitis', Annals of the Rheumatic Diseases, 80(9), pp. 1168-1174.
Vancouver	Li Z, Wu X, Leo PJ, De Guzman E, Akkoc N, Breban M, et al.. Polygenic Risk Scores Have High Diagnostic Capacity in Ankylosing Spondylitis. Annals of the Rheumatic Diseases. 2021;80(9):1168-1174.
BibTex	@article{ author = {Li Z and Wu X and Leo PJ and De Guzman E and Akkoc N and Breban M and Macfarlane GJ and Mahmoudi M and Marzoortega H and Anderson LK and Wheeler L and Chou CT and Harrison AA and Stebbings S and Jones GT and Bang SY and Wang G and Jamshidi A and Farhadi E and Song J and Lin L and Li M and Wei JCC and Martin NG and Wright MJ and Lee M and Wang Y and Zhan J and Zhang JS and Wang X and Jin ZB and Weisman MH and Gensler LS and Ward MM and Rahbar MH and Diekman L and Kim TH and Reveille JD and Wordsworth BP and Xu H and Brown MA}, title = {Polygenic Risk Scores Have High Diagnostic Capacity in Ankylosing Spondylitis}, journal = {Annals of the Rheumatic Diseases}, volume = {80}, number = {9}, pages = {1168-1174}, year = {2021} }
RIS	TY - JOUR AU - Li Z AU - Wu X AU - Leo PJ AU - De Guzman E AU - Akkoc N AU - Breban M AU - Macfarlane GJ AU - Mahmoudi M AU - Marzoortega H AU - Anderson LK AU - Wheeler L AU - Chou CT AU - Harrison AA AU - Stebbings S AU - Jones GT AU - Bang SY AU - Wang G AU - Jamshidi A AU - Farhadi E AU - Song J AU - Lin L AU - Li M AU - Wei JCC AU - Martin NG AU - Wright MJ AU - Lee M AU - Wang Y AU - Zhan J AU - Zhang JS AU - Wang X AU - Jin ZB AU - Weisman MH AU - Gensler LS AU - Ward MM AU - Rahbar MH AU - Diekman L AU - Kim TH AU - Reveille JD AU - Wordsworth BP AU - Xu H AU - Brown MA TI - Polygenic Risk Scores Have High Diagnostic Capacity in Ankylosing Spondylitis JO - Annals of the Rheumatic Diseases VL - 80 IS - 9 SP - 1168 EP - 1174 PY - 2021 ER -

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