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Prognostic value of polygenic risk scores for adults with psychosis
Nature Medicine ( IF 82.9 ) Pub Date : 2021-09-06 , DOI: 10.1038/s41591-021-01475-7
Isotta Landi 1, 2, 3, 4 , Deepak A Kaji 1, 2, 3 , Liam Cotter 1, 2, 3, 4 , Tielman Van Vleck 3, 4, 5, 6 , Gillian Belbin 5, 7 , Michael Preuss 6 , Ruth J F Loos 6 , Eimear Kenny 2, 5, 7 , Benjamin S Glicksberg 2, 3, 4 , Noam D Beckmann 2, 3 , Paul O'Reilly 2 , Eric E Schadt 2, 8 , Eric D Achtyes 9, 10 , Peter F Buckley 11 , Douglas Lehrer 12 , Dolores P Malaspina 1, 2 , Steven A McCarroll 13, 14 , Mark H Rapaport 15, 16 , Ayman H Fanous 17, 18 , Michele T Pato 17 , Carlos N Pato 17 , Tim B Bigdeli 17, 18 , Girish N Nadkarni 3, 4, 5, 6 , Alexander W Charney 1, 2, 3
Affiliation  

Polygenic risk scores (PRS) summarize genetic liability to a disease at the individual level, and the aim is to use them as biomarkers of disease and poor outcomes in real-world clinical practice. To date, few studies have assessed the prognostic value of PRS relative to standards of care. Schizophrenia (SCZ), the archetypal psychotic illness, is an ideal test case for this because the predictive power of the SCZ PRS exceeds that of most other common diseases. Here, we analyzed clinical and genetic data from two multi-ethnic cohorts totaling 8,541 adults with SCZ and related psychotic disorders, to assess whether the SCZ PRS improves the prediction of poor outcomes relative to clinical features captured in a standard psychiatric interview. For all outcomes investigated, the SCZ PRS did not improve the performance of predictive models, an observation that was generally robust to divergent case ascertainment strategies and the ancestral background of the study participants.



中文翻译:

成人精神病患者多基因风险评分的预后价值

多基因风险评分(PRS)总结了个体水平上疾病的遗传倾向,目的是将它们用作现实临床实践中疾病和不良结果的生物标志物。迄今为止,很少有研究评估 PRS 相对于护理标准的预后价值。精神分裂症 (SCZ) 是一种典型的精神病,是一个理想的测试案例,因为 SCZ PRS 的预测能力超过了大多数其他常见疾病。在这里,我们分析了两个多种族队列的临床和遗传数据,共 8,541 名患有 SCZ 和相关精神障碍的成年人,以评估 SCZ PRS 是否可以改善相对于标准精神病学访谈中捕获的临床特征的不良结果的预测。对于所有调查的结果,SCZ PRS 并没有提高预测模型的性能,这一观察结果对于不同的病例确定策略和研究参与者的祖先背景来说通常是稳健的。

更新日期:2021-09-06
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