Regulatory potential of polymorphic variants of genes of BDNF-mediated protein kinase signaling pathways associated with schizophrenia

Regulatory potential of polymorphic variants of genes of BDNF-mediated protein kinase signaling pathways associated with schizophrenia

 

Authors

 

A.S. Boiko

Mental Health Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russian Federation

D.Z. Paderina

Federal State Budgetary Educational Institution of Higher Education “Siberian State Medical University” of the Ministry of Health of the Russian Federation, Tomsk, Russian Federation

S.A. Ivanova

Mental Health Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russian Federation; Federal State Budgetary Educational Institution of Higher Education “Siberian State Medical University” of the Ministry of Health of the Russian Federation, Tomsk, Russian Federation

 

https://doi.org/10.26617/1810-3111-2025-3(128)-5-16

 

Journal: Siberian Herald of Psychiatry and Addiction Psychiatry. 2025; 3 (128):  5-16.

 

Abstract

Background. Schizophrenia is a severe mental illness with unclear etiology and pathogenesis. Literature data indicate an important role of genetic factors. In particular, changes in the regulatory potential of genes encoding BDNF and a number of protein kinase signaling pathways can play a significant role in the development of schizophrenia and the formation of clinical heterogeneity of the disease. Objective. To identify the genetic regulatory potential of genes encoding BDNF-mediated protein kinase signaling pathways in patients with schizophrenia based on bioinformatics analysis. Material and methods. The regulatory potential of the relationships between single nucleotide polymorphisms and gene expression was assessed using genetic variability data from the Genotype-Tissue Expression project portal. Results. The conducted bioinformatics analysis using open resources allowed us to reveal that polymorphic variants of rs8136867 of the MAPK gene, rs11030104 of the BDNF gene, rs334558 of the GSK3β gene and rs1130233 of the AKT1 gene, associated with clinical heterogeneity of schizophrenia, are expression quantitative trait loci (eQTL) and have significant regulatory potential for influencing other genes. The identified associations and regulatory potential confirm the involvement of the studied genes in the pathogenesis of schizophrenia and its clinical heterogeneity.

 

Keywords: schizophrenia, polymorphic variant, brain-derived neurotrophic factor, protein kinase signaling pathways, quantitative trait locus, regulatory potential.

 

Article (pdf)

 

Contacts

 

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Materials  

For citation: Boiko A.S., Paderina D.Z., Ivanova S.A. Regulatory potential of polymorphic variants of genes of BDNF-mediated protein kinase signaling pathways associated with schizophrenia. Siberian Herald of Psychiatry and Addiction Psychiatry.2025; 3 (128): 5-16. https://doi.org/10.26617/1810-3111-2025-3(128)-5-16

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