Candidate Genetic Markers of Schizophrenia Based on Exome Sequencing Data and Its Relation to Immunological, Clinical, and Morphometric Changes in the Russian Population

• DOI: 10.17691/stm2025.17.2.06
• Publication Date: 2025-04-30T09:57:02Z
• Authors: S.M. Rastorguev; S.V. Tsygankova; M.A. Kaidan; V.L. Ushakov; I.K. Malashenkova; S.A. Krynskiy; D.P. Ogurtsov; N.A. Hailov; N.V. Zakharova; G.P. Kostyuk
• Keywords: Genetic data

The aim of the study was to identify genetic markers schizophrenia based on exome sequencing data, as well specify its potential relation clinical manifestations disease, morphological changes in brain and immune disorders. analyzed sample consisted 48 patients (23 men 25 women; average age - 31.5±7.7 years) having a confirmed diagnosis paranoid schizophrenia. 140 genes with differential polymorphisms enriched categories that may be related pathogenesis were identified. Analysis frequencies functionally significant common single nucleotide (SNPs) by their major functions showed most involved regulation system development nervous system, being structural components neurons glia perception sensory stimuli. findings confirm complexity basis top 10 containing specifies such MUC12 SH3KBP1. response include HLA-DQB2 which is one significantly different SNPs between group general population; SNP (rs9276572) signs dysfunction antiviral component cognitive challenges. Although detected are unique studied, additional studies required these genes' involvement this disease mechanisms onset development. rs9276572(C) polymorphism requires further new marker immunological disorders, morphometric impairment data obtained indicate need for personalized medicine, because majority prerequisites patient-specific highlight importance research understand aspects develop innovative approaches treatment.