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The Influence of Genotype on Phenotype in Contemporary Research into the Genetic Causes of Schizophrenia

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The aim of the present review was to consider different approaches to establishing genotype–phenotype relationships in schizophrenia taking account of schizophrenia-specific mediating factors in the light of contemporary advances in human genome research. A variety of structural elements of the genome are shown to be able to contribute to formation of the phenotype. Genotype–phenotype relationships can be mediated by epigenetic effects, which can have different origins – from the currently best studied methylation of defined sites in the genome to recently developing concepts of remote regulatory genomic elements in the origination of schizophrenia. The transition to more in-depth investigations of the relationship between genotype and phenotype is relevant to the current period of molecular genetic research in schizophrenia. The concept of “phenotype” as applied to schizophrenia clearly does not reduce to a causal reflection of changes in the structure of a particular gene, but is the product of a set of the actions of environmental factors and epigenetic changes influencing gene expression, taking account of tissue specificity and the level of cell stimulation.

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Authors and Affiliations

  1. Mental Health Research Center, Moscow, Russia

    V. E. Golimbet

  2. Alexeev Mental Health Clinic No. 1, Moscow Healthcare Department, Moscow, Russia

    G. P. Kostyuk

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Correspondence to V. E. Golimbet.

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Translated from Zhurnal Nevrologii i Psikhiatrii imeni S. S. Korsakova, Vol. 122, No. 1, Iss. 2, pp. 20–25, January, 2022.

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Golimbet, V.E., Kostyuk, G.P. The Influence of Genotype on Phenotype in Contemporary Research into the Genetic Causes of Schizophrenia. Neurosci Behav Physi 52, 849–854 (2022). https://doi.org/10.1007/s11055-022-01308-1

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