精神分裂症认知障碍的遗传学研究进展

Advances in the genetics of cognitive impairment in schizophrenia

精神分裂症是一类具有遗传背景的神经发育性脑疾病,认知障碍作为精神分裂症患者的核心症状一直被关注,遗传因素在精神分裂症的认知功能损害过程中发挥重要作用。为探讨多种神经递质系统和神经发育相关基因与精神分裂症认知障碍的关系,作者以精神分裂症、认知、遗传、多巴胺、谷氨酸、5-羟色胺、去甲肾上腺素、乙酰胆碱、神经发育、全基因组关联研究作为关键词在Pubmed、ScienceDirect、中国知网学术期刊数据库、万方学术期刊数据库等多个数据库检索了从2001年1月至2019年10月期间已发表的英文和中文文献,大量阅读后筛选出符合综述主题的文献,同时对已查阅文献的参考文献应用文献追溯法进行查询。最终纳入31篇相关文献,研究发现精神分裂症认知障碍与多种神经递质系统基因和神经发育相关基因有关,而这些基因在认知障碍过程中作用机制不同。精神分裂症认知障碍的发生发展涉及多基因效应,从神经递质系统和神经发育水平的遗传研究有助于深入探讨精神分裂症认知障碍的病理机制。未来的研究应着重探索精神分裂症致病/候选基因如何影响神经递质系统和神经发育相关环路,进一步阐明遗传因素在精神分裂症认知障碍发生发展过程中的作用机制。

Schizophrenia is a kind of neurodevelopmental brain disease with genetic background.Cognitive impairment has always been concerned as the core symptom of schizophrenia,and genetic factors play an important role in the cognitive impairment process of schizophrenia.This paper intends to explore the relationship between various neurotransmitter systems and neurodevelopmental related genes and cognitive impairment in schizophrenia.With"schizophrenia""cognitive"and"genetic""dopamine""glutamate""serotonin""norepinephrine""acetylcholine""neurodevelopmental""genome-wide association studies"as key words,the author searched the English and Chinese literatures published from January 2001 to October 2019 in several databases,such as Pubmed,ScienceDirect,CNKI academic journal database,Wanfang academic journal database,and selected the literature that was in line with the review topic after a large number of readings.Meanwhile,the author applied the literature tracing method to search the references of the literature that had been reviewed.Finally,29 related literatures were included,and it was found that cognitive impairment in schizophrenia is related to multiple neurotransmitter system genes and neurodevelopmental genes,and these genes have different mechanisms of action in the process of cognitive impairment.The occurrence and development of cognitive impairment in schizophrenia involve multiple gene effects.The genetic study of neurotransmitter system and neurodevelopmental level is helpful to explore the pathological mechanism of cognitive impairment in schizophrenia.Future research should focus on how the pathogenesis/candidate genes of schizophrenia affect the neurotransmitter system and neurodevelopmental circuits,and further elucidate the mechanism of genetic factors in the development of cognitive impairment in schizophrenia.