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

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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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Authors and Affiliations

  1. Kol’tsov Institute of Developmental Biology, Russian Academy of Sciences, Moscow, Russia

    A. A. Shmakova

  2. Lomonosov Moscow State University, Moscow, Russia

    E. V. Semina, E. A. Neyfeld, B. D. Tsygankov & M. N. Karagyaur

  3. Institute of Regenerative Medicine, Lomonosov Moscow State University, Moscow, Russia

    E. V. Semina & M. N. Karagyaur

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  1. A. A. Shmakova
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Correspondence to A. A. Shmakova.

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Translated from Zhurnal Nevrologii i Psikhiatrii imeni S. S. Korsakova, Vol. 123, No. 2, Iss. 1, pp. 26–36, February, 2023.

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Shmakova, A.A., Semina, E.V., Neyfeld, E.A. et al. Analysis of the Relationship between Genetic Factors and the Risk of Schizophrenia. Neurosci Behav Physi 53, 1128–1138 (2023). https://doi.org/10.1007/s11055-023-01513-6

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  • DOI: https://doi.org/10.1007/s11055-023-01513-6

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