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精神分裂症首次发作后复发的多基因基础。

The polygenic basis of relapse after a first episode of schizophrenia.

作者信息

Segura Àlex-González, Prohens Llucia, Gassó Patricia, Rodríguez Natalia, Garcia-Rizo Clemente, Moreno-Izco Lucía, Andreu-Bernabeu Álvaro, Zorrilla Iñaki, Mane Anna, Rodriguez-Jimenez Roberto, Roldán Alexandra, Sarró Salvador, Ibáñez Ángela, Usall Judith, Sáiz Pilar A, Cuesta Manuel J, Parellada Mara, González-Pinto Ana, Berrocoso Ester, Bernardo Miquel, Mas Sergi, Mezquida Gisela, Arbelo Néstor, De Matteis Mario, Galvañ Joaquín, Duque Guerra Alejandra, Arias I Queralt Laia, Perez-Bacigalupe Maria, Gonzalez-Ortega Itxaso, Toll Alba, Casanovas Francesc, Sanchez-Pastor Luis, Valtueña Mercedes, Pomarol-Clotet Edith, García-León Maria Ángeles, Butjosa Ana, Rubio-Abadal Elena, Ribeiro María, López-Ilundain Jose M, Saiz-Ruiz Jeronimo, León-Quismondo Luis, Rivero Olga, Ruiz Pedro, Echevarría Rafael Segarra, García-Portilla M Paz

机构信息

Department of Clinical Foundations, Pharmacology Unit, University of Barcelona, Barcelona, Spain.

Department of Clinical Foundations, Pharmacology Unit, University of Barcelona, Barcelona, Spain; Institut d'investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en red en salud Mental (CIBERSAM), Spain.

出版信息

Eur Neuropsychopharmacol. 2023 Oct;75:80-92. doi: 10.1016/j.euroneuro.2023.06.003. Epub 2023 Aug 19.

DOI:10.1016/j.euroneuro.2023.06.003
PMID:37603902
Abstract

Little is known about genetic predisposition to relapse. Previous studies have linked cognitive and psychopathological (mainly schizophrenia and bipolar disorder) polygenic risk scores (PRS) with clinical manifestations of the disease. This study aims to explore the potential role of PRS from major mental disorders and cognition on schizophrenia relapse. 114 patients recruited in the 2EPs Project were included (56 patients who had not experienced relapse after 3 years of enrollment and 58 patients who relapsed during the 3-year follow-up). PRS for schizophrenia (PRS-SZ), bipolar disorder (PRS-BD), education attainment (PRS-EA) and cognitive performance (PRS-CP) were used to assess the genetic risk of schizophrenia relapse.Patients with higher PRS-EA, showed both a lower risk (OR=0.29, 95% CI [0.11-0.73]) and a later onset of relapse (30.96± 1.74 vs. 23.12± 1.14 months, p=0.007. Our study provides evidence that the genetic burden of neurocognitive function is a potentially predictors of relapse that could be incorporated into future risk prediction models. Moreover, appropriate treatments for cognitive symptoms appear to be important for improving the long-term clinical outcome of relapse.

摘要

关于复发的遗传易感性知之甚少。先前的研究已将认知和精神病理学(主要是精神分裂症和双相情感障碍)多基因风险评分(PRS)与疾病的临床表现联系起来。本研究旨在探讨主要精神障碍和认知的PRS对精神分裂症复发的潜在作用。纳入了在2EPs项目中招募的114名患者(56名在入组3年后未复发的患者和58名在3年随访期间复发的患者)。使用精神分裂症的PRS(PRS-SZ)、双相情感障碍的PRS(PRS-BD)、受教育程度的PRS(PRS-EA)和认知表现的PRS(PRS-CP)来评估精神分裂症复发的遗传风险。PRS-EA较高的患者复发风险较低(OR=0.29,95%CI[0.11-0.73])且复发 onset较晚(30.96±1.74对23.12±1.14个月,p=0.007)。我们的研究提供了证据,表明神经认知功能的遗传负担是复发的潜在预测因素,可纳入未来的风险预测模型。此外,针对认知症状的适当治疗对于改善复发的长期临床结果似乎很重要。

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引用本文的文献

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From Genetics to Psychosocial Functioning: Unraveling the Mediating Roles of Cognitive Reserve, Cognition, and Negative Symptoms in First-Episode Psychosis.从基因到心理社会功能:揭示认知储备、认知和阴性症状在首发精神病中的中介作用
Acta Psychiatr Scand. 2024 Dec 25;151(5):600-12. doi: 10.1111/acps.13779.
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[Long-term courses in schizophrenia : A review of current results and developments].
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Nervenarzt. 2025 Jan;96(1):5-14. doi: 10.1007/s00115-024-01790-7. Epub 2024 Dec 19.
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