Polygenic Risk Scores have high diagnostic capacity in ankylosing spondylitis.
Polygenic Risk Scores have high diagnostic capacity in ankylosing spondylitis.
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多基因风险评分对强直性脊柱炎具有较高的诊断能力。
DOI：
10.1136/annrheumdis-2020-219446
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发表时间：
2021-09
影响因子：
27.4
通讯作者：
TCRI AS Group
中科院分区：
文献类型：
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作者：
Li 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;Stebbings S;Jones GT;Bang SY;Wang G;Jamshidi A;Farhadi E;Song J;Lin L;Li M;Wei JC;Martin NG;Wright MJ;Lee M;Wang Y;Zhan J;Zhang JS;Wang X;Jin ZB;Weisman MH;Gensler LS;Ward MM;Rahbar MH;Diekman L;Kim TH;Reveille JD;Wordsworth BP;Xu H;Brown MA;TCRI AS Group
我们试图检验这一假设，即多基因风险评分（PRS）有很强的能力区分强直性脊柱炎（AS）病例与健康对照组和社区慢性背痛患者。使用来自15585例AS病例和20452例对照的全基因组关联研究的数据，在欧洲和东亚种族的个体中开发并验证了PRS。将这些人群中PRS的判别值与其他广泛使用的诊断测试进行比较，包括C反应蛋白（CRP）、HLA-B27和骶髂MRI。在欧洲血统的人，PRS有很高的区分能力，曲线下面积（AUC）在受试者操作者特征分析为0.924。这显著优于单独的HLA-B27测试（AUC=0.869）、MRI（AUC=0.885）或C-反应蛋白（AUC=0.700）。在东亚血统个体中开发和验证的PRS表现相似（AUC=0.948）。假设AS的先验概率为10%，例如在45岁以下的慢性背痛患者中，与单独进行HLA-B27检测相比，PRS为35%的患者提供了更高的阳性值，为67.5%的患者提供了阴性预测值。对于PRS，在欧洲血统的人中，最大阳性预测值为78.2%，阴性预测值为100%，而对于HLA-B27，这些值分别为51.9%和97.9%。PRS对AS的鉴别能力高于CRP、骶髂MRI或HLA-B27状态。为取得最佳效果，应制定减贫战略，供其适用的特定族裔群体使用。
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. 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. 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. 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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影响因子：
--
作者：
Haroon, Nigil;Inman, Robert D.;Learch, Thomas J.;Weisman, Michael H.;Lee, MinJae;Rahbar, Mohammad H.;Ward, Michael M.;Reveille, John D.;Gensler, Lianne S.
通讯作者：
Gensler, Lianne S.
影响因子：
2
作者：
Pencina, Michael J.;D'Agostino, Ralph B., Sr.;Steyerberg, Ewout W.
通讯作者：
Steyerberg, Ewout W.
影响因子：
30.8
作者：
Ellinghaus D;Jostins L;Spain SL;Cortes A;Bethune J;Han B;Park YR;Raychaudhuri S;Pouget JG;Hübenthal M;Folseraas T;Wang Y;Esko T;Metspalu A;Westra HJ;Franke L;Pers TH;Weersma RK;Collij V;D'Amato M;Halfvarson J;Jensen AB;Lieb W;Degenhardt F;Forstner AJ;Hofmann A;International IBD Genetics Consortium (IIBDGC);International Genetics of Ankylosing Spondylitis Consortium (IGAS);International PSC Study Group (IPSCSG);Genetic Analysis of Psoriasis Consortium (GAPC);Psoriasis Association Genetics Extension (PAGE);Schreiber S;Mrowietz U;Juran BD;Lazaridis KN;Brunak S;Dale AM;Trembath RC;Weidinger S;Weichenthal M;Ellinghaus E;Elder JT;Barker JN;Andreassen OA;McGovern DP;Karlsen TH;Barrett JC;Parkes M;Brown MA;Franke A
通讯作者：
Franke A
影响因子：
4.7
作者：
Molto, A.;Paternotte, S.;Dougados, M.
通讯作者：
Dougados, M.
影响因子：
2.1
作者：
Reed, M. D.;Dharmage, S.;Schachna, L.
通讯作者：
Schachna, L.