Lin Ping, Sun Junyu, Lou Xiaoyan, Li Dan, Shi Yun, Li Zhenhua, Ma Peijun, Li Ping, Chen Shuzi, Jin Weifeng, Liu Shuai, Chen Qing, Gao Qiong, Zhu Lili, Xu Jie, Zhu Mengyuan, Wang Mengxia, Liang Kangyi, Zhao Ling, Xu Huabin, Dong Ke, Li Qingtian, Cheng Xunjia, Chen Jinghong, Guo Xiaokui
Department of Clinical Laboratory, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Department of Medical Microbiology and Parasitology, Fudan University School of Basic Medical Sciences, Shanghai, China.
Gen Psychiatr. 2022 Feb 23;35(1):e100685. doi: 10.1136/gpsych-2021-100685. eCollection 2022.
Schizophrenia is a serious mental illness affecting approximately 20 million individuals globally. Both genetic and environmental factors contribute to the illness. If left undiagnosed and untreated, schizophrenia results in impaired social function, repeated hospital admissions, reduced quality of life and decreased life expectancy. Clinical diagnosis largely relies on subjective evidence, including self-reported experiences, and reported behavioural abnormalities followed by psychiatric evaluation. In addition, psychoses may occur along with other conditions, and the symptoms are often episodic and transient, posing a significant challenge to the precision of diagnosis. Therefore, objective, specific tests using biomarkers are urgently needed for differential diagnosis of schizophrenia in clinical practice.
We aimed to provide evidence-based and consensus-based recommendations, with a summary of laboratory measurements that could potentially be used as biomarkers for schizophrenia, and to discuss directions for future research.
We searched publications within the last 10 years with the following keywords: 'schizophrenia', 'gene', 'inflammation', 'neurotransmitter', 'protein marker', 'gut microbiota', 'pharmacogenomics' and 'biomarker'. A draft of the consensus was discussed and agreed on by all authors at a round table session.
We summarised the characteristics of candidate diagnostic markers for schizophrenia, including genetic, inflammatory, neurotransmitter, peripheral protein, pharmacogenomic and gut microbiota markers. We also proposed a novel laboratory process for diagnosing schizophrenia in clinical practice based on the evidence summarised in this paper.
Further efforts are needed to identify schizophrenia-specific genetic and epigenetic markers for precise diagnosis, differential diagnosis and ethnicity-specific markers for the Chinese population. The development of novel laboratory techniques is making it possible to use these biomarkers clinically to diagnose disease.
精神分裂症是一种严重的精神疾病，全球约有2000万人受其影响。遗传和环境因素均与该病有关。如果未得到诊断和治疗，精神分裂症会导致社会功能受损、反复住院、生活质量下降和预期寿命缩短。临床诊断很大程度上依赖主观证据，包括自我报告的经历以及报告的行为异常，随后进行精神科评估。此外，精神病可能与其他病症同时出现，且症状往往是发作性和短暂性的，这给诊断的准确性带来了重大挑战。因此，在临床实践中，迫切需要使用生物标志物进行客观、特异性的检测以鉴别诊断精神分裂症。
我们旨在提供基于证据和共识的建议，总结可能用作精神分裂症生物标志物的实验室检测指标，并讨论未来研究方向。
我们检索了过去10年发表的文献，关键词如下：“精神分裂症”“基因”“炎症”“神经递质”“蛋白质标志物”“肠道微生物群”“药物基因组学”和“生物标志物”。所有作者在一次圆桌会议上讨论并商定了共识草案。
我们总结了精神分裂症候选诊断标志物的特征，包括遗传、炎症、神经递质、外周蛋白、药物基因组学和肠道微生物群标志物。我们还基于本文总结的证据提出了一种在临床实践中诊断精神分裂症的新型实验室流程。
需要进一步努力确定用于精确诊断、鉴别诊断的精神分裂症特异性遗传和表观遗传标志物以及针对中国人群的种族特异性标志物。新型实验室技术的发展使得在临床上使用这些生物标志物诊断疾病成为可能。
