美国西奈山伊坎医学院Alexander W. Charney、Isotta Landi等研究人员合作揭示成年精神病患者多基因风险评分的预后价值。该项研究成果于2021年9月6日在线发表在《自然—医学》杂志上。

研究人员表示，多基因风险评分（PRS）总结了个人层面的疾病遗传关联，其目的是在现实世界的临床实践中把它们作为疾病和不良后果的生物标志物。到目前为止，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）是典型的精神病性疾病，这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。

研究人员分析了两个多民族队列的临床和遗传数据，总共有8,541名患有SCZ和相关精神病的成年人，用于评估SCZ PRS相对于标准精神病访谈中的临床特征是否能改善对不良结果的预测。对于所有调查的结果，SCZ PRS并没有提高预测模型的性能，这一观察对不同的病例确认策略和研究参与者的祖先背景普遍是稳健的。

附：英文原文

Title: Prognostic value of polygenic risk scores for adults with psychosis

Author: Landi, Isotta, Kaji, Deepak A., Cotter, Liam, Van Vleck, Tielman, Belbin, Gillian, Preuss, Michael, Loos, Ruth J. F., Kenny, Eimear, Glicksberg, Benjamin S., Beckmann, Noam D., OReilly, Paul, Schadt, Eric E., Achtyes, Eric D., Buckley, Peter F., Lehrer, Douglas, Malaspina, Dolores P., McCarroll, Steven A., Rapaport, Mark H., Fanous, Ayman H., Pato, Michele T., Pato, Carlos N., Bigdeli, Tim B., Nadkarni, Girish N., Charney, Alexander W.

Issue&Volume: 2021-09-06

Abstract: 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. 

DOI: 10.1038/s41591-021-01475-7

Source: https://www.nature.com/articles/s41591-021-01475-7