Genotype — phenotype relationships in view of recent advances in the understanding of genetic causes of schizophrenia

Golimbet V.E.; Kostyuk G.P.

doi:https://doi.org/10.17116/jnevro202212201220

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Abstract:

Genotype — phenotype relationships are considered in view of recent advances in our understanding of genome structure. Different DNA elements can contribute to phenotype formation. Genotype — phenotype relationships are mediated by epigenetic effects that can have various origins — from the most studied to date methylation of certain sites in the genome to only developing ideas about the role of remote regulatory genomic elements in the development of schizophrenia. The transition to a more in-depth study of genotype — phenotype relationships is relevant for the current period of molecular-genetic studies of schizophrenia. Obviously, the concept of phenotype as applied to schizophrenia is not limited to a causal reflection of changes in the structure of a particular gene, but is the product of the combined effect of environmental factors and epigenetic changes that affect gene expression, taking into account tissue specificity and the degree of cell stimulation.

Keywords:

schizophrenia

genome

single nucleotide polymorphism

mutations

DNA methylation

regulatory genomic elements

genotype-environmental interactions

Authors:

Golimbet V.E.

Mental Health Research Center

ORCID: 0000-0002-9960-7114

Kostyuk G.P.

Alekseev Psychiatric Clinical Hospital No. 1

SPIN RSCI: 3424-4544
Scopus AuthorID: 57200081884
ORCID: 0000-0002-3073-6305

Received:

12.11.2021

Accepted:

01.12.2021

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References:

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