Polygenic Risk Scores have high diagnostic capacity in ankylosing spondylitis
In: ISSN: 0003-4967, 2021
Online
academicJournal
Zugriff:
International audience ; 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.
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Polygenic Risk Scores have high diagnostic capacity in ankylosing spondylitis
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Autor/in / Beteiligte Person: | Li, Zhixiu ; Wu, Xin ; Leo, Paul ; de Guzman, Erika ; Akkoc, Nurullah ; Breban, Maxime ; Macfarlane, Gary ; Mahmoudi, Mahdi ; Marzo-Ortega, Helena ; Anderson, Lisa ; Wheeler, Lawrie ; Chou, Chung-Tei ; Harrison, Andrew ; Stebbings, Simon ; Jones, Gareth ; Bang, So-Young ; Wang, Geng ; Jamshidi, Ahmadreza ; Farhadi, Elham ; Song, Jing ; Lin, Li ; Li, Mengmeng ; Wei, James Cheng-Chung ; Martin, Nicholas ; Wright, Margaret ; Lee, Minjae ; Wang, Yuqin ; Zhan, Jian ; Zhang, Jin-San ; Wang, Xiaobing ; Jin, Zi-Bing ; Weisman, Michael ; Gensler, Lianne ; Ward, Michael ; Rahbar, Mohammad Hossein ; Diekman, Laura ; Kim, Tae-Hwan ; Reveille, John ; Wordsworth, Bryan Paul ; Xu, Huji ; Brown, Matthew ; Queensland University of Technology Brisbane (QUT) ; Second Military Medical University Shanghai ; Manisa Celal Bayar University ; Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé) ; Université de Versailles Saint-Quentin-en-Yvelines (UVSQ) ; Infection et inflammation (2I) ; Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM) ; Hôpital Ambroise Paré AP-HP ; Laboratoire d'Excellence INFLAMEX Paris ; Université Sorbonne Paris Cité (USPC) ; University of Aberdeen ; Tehran University of Medical Sciences (TUMS) ; University of Leeds ; Leeds Teaching Hospitals NHS Trust ; National Yang Ming University (NYMU) ; Taipei Veterans General Hospital Taiwan ; University of Otago Dunedin, Nouvelle-Zélande ; University, Hanyang ; University of Queensland Brisbane ; Chung Shan Medical University ; China Medical University ; QIMR Berghofer Medical Research Institute ; Queensland Brain Institute ; University of Texas Southwestern Medical Center Dallas ; Wenzhou Medical University Wenzhou, China (WMU) ; Griffith University Brisbane ; The First Affiliated Hospital of Wenzhou Medical University Wenzhou, China ; University, Wenzhou ; Beijing Tongren Hospital ; Cedars-Sinai Medical Center ; University of California San Francisco (UC San Francisco) ; University of California (UC) ; National Institutes of Health Bethesda (NIH) ; The University of Texas Health Science Center at Houston (UTHealth) ; University of Oxford ; Tsinghua University Beijing (THU) ; King‘s College London ; TCRI AS Group: Jian Yin, Lei Jiang, Lin Zhou, Ting Li, Qingwen Wang, Tianwang Li, Guanmin Gao, Shengqian Xu, Weiguo Xiao, Hui Shen, Jingguo Zhou, Yuquan You, Dongbao Zhao, Qing Cai, Shengming Dai, Lan He, Ping Zhu, Zhenyu Jiang, Jian Xu, Huaxiang Wu, Lie Dai, Yang Li, Feng Ding, Xiaochun Zhu, Chongyang Liu, Dongyi He, Liyun Zhang, Zhijun Li, Futao Zhao, Hanshi Xu, Niansong Wang, Youlian Wang, Lindi Jiang, Yu Zhang, Jinwei Chen, Fang Cheng, Zhiyi Zhang, Yifang Mei, Liangjing Lv, Lingli Dong, Jing Yang, Yinong Li, Xiaodong Wang, Xiaofeng Li, Hongsheng Sun, Xianming Long, Xiao Zhang, Qinghong Yu, Xiaodan Kong, Yi Zheng, Miaojia Zhang, Yi Tao, Yisha Li, Xinwang Duan, Qianghua Wei, Xiaofei Wang, Jie Han, Rong Mu, Yiping Lin, Jian Zhu, Xiaoyuan Chen ; ANR-10-MIDI-0002,GEMISA,GEnétique, Microbiote, Inflammation, et Spondylarthrite Ankylosante(2010) |
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Zeitschrift: | ISSN: 0003-4967, 2021 |
Veröffentlichung: | HAL CCSD ; BMJ Publishing Group, 2021 |
Medientyp: | academicJournal |
DOI: | 10.1136/annrheumdis-2020-219446 |
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