Analysis of the Relationship between Genetic Factors and the Risk of Schizophrenia

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova(2023)

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摘要
The etiology and pathogenesis of schizophrenia remain poorly understood, though it has been established that the contribution of heredity to the development of the disease is 80–85%. Over the past decade, significant progress has been made in the search for specific genetic variants associated with the development of schizophrenia. In this review, we discuss the results of recent large-scale studies seeking genetic associations with schizophrenia: genome-wide association studies (GWAS) and searches for rare variants (mutations or copy number variations, CNV), including studies using whole-exome sequencing. We synthesize data on currently known genes which are significantly associated with the development of schizophrenia and discuss their biological functions to identify the main molecular pathways involved in the pathophysiology of schizophrenia.
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关键词
CNV,GWAS,rare variants,schizophrenia,whole exome sequencing
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