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

Автор: Boiko A.S., Paderina D.Z., Ivanova S.A.

Журнал: Сибирский вестник психиатрии и наркологии @svpin

Рубрика: Биологические исследования

Статья в выпуске: 3 (128), 2025 года.

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Background. Schizophrenia is a severe mental illness with unclear etiology and pathogenesis. Literature data indi-cate 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 encod-ing 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, asso-ciated 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 in-volvement of the studied genes in the pathogenesis of schizophrenia and its clinical heterogeneity.

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Schizophrenia, polymorphic variant, brain-derived neurotrophic factor, protein kinase signaling pathways, quantitative trait locus, regulatory potential

Короткий адрес: https://sciup.org/142245991

IDR: 142245991   |   УДК: 636.082.12:577.2:616.895.8   |   DOI: 10.26617/1810-3111-2025-3(128)-5-16