Characteristics of Genetic Polymorphisms Associated with Neurophysiological Processes and Analysis of Their Frequency Distributions in the Russian Population

• Published in: Neuroscience and behavioral physiology 2023-02, Vol.53 (2), p.164-169
• Main Authors: Kutelev, G. G., Malyshkin, S. S., Krivoruchko, A. B., Ivanov, A. M., Cherkashin, D. V., Trandina, A. E., Morozova, N. E., Derevyankin, D. S.
• Format: Article
• Language: English
• Subjects: 5-Methyltetrahydrofolate-homocysteine S-methyltransferase; Alleles; Alzheimer's disease; Autism; Behavior; Behavioral Sciences; Biomarkers; Biomedical and Life Sciences; Biomedicine; Brain-derived neurotrophic factor; Ciliary neurotrophic factor; DNA methylation; Enzymes; Gene frequency; Gene polymorphism; Genes; Genetic markers; Genetic testing; Genotype & phenotype; Genotyping; Heterozygosity; Mental disorders; Metabolism; Methionine; Methylenetetrahydrofolate reductase; Mitochondrial uncoupling protein 2; Molecular modelling; Neurobiology; Neurosciences; Peroxisome proliferator-activated receptors; Polymerase chain reaction; Polymorphism; Population genetics; Population studies; Restriction fragment length polymorphism; Schizophrenia; Serotonin; Serotonin receptors; Single-nucleotide polymorphism; Statistical analysis
• ISSN: 0097-0549; 1573-899X
• DOI: 10.1007/s11055-023-01403-x

Objectives . To analyze polymorphic loci of genes whose products are directly involved in the molecular mechanisms regulating neurophysiological processes. Materials and methods . The cohort of subjects consisted of 128 unrelated males and females living in the European part of Russia. The study evaluated the frequencies of occurrence of 11 single-nucleotide substitutions located in the genes encoding serotonin receptors, ciliary neurotrophic factor, uncoupling protein 2, methylenetetrahydrofolate reductase, methionine synthase, methionine synthase reductase, dipeptidylcarboxypeptidase 1, peroxisome proliferator-activated receptor γ-coactivator, and brain-derived neurotrophic factor. Genotyping of samples was by PCR with fluorescent detection and restriction fragment length polymorphism analysis. Results . The distributions of genotype polymorphisms complied with Hardy–Weinberg equilibrium, with the exception of rs1801133 MTHFR (χ 2 = 5.3088, p = 0.0212), where there was a reduced level of heterozygosity. Study data on the distributions of minor alleles did not show statistically significant deviations from data obtained from the European population, though there were deviations with respect to the Asian, African, and Latin American populations. Conclusions . Statistically significant consistency of allele frequencies in the study group with populations from other regions and studies run in them provide grounds for including the single-nucleotide polymorphisms selected here in a list of a limited set of molecular genetic markers, which can supplement the mental health monitoring system and improve the professional training of people in extreme professions.