Association of the occurrence of single-nucleotide genomic variants in the genes of brain morphogenesis with a predisposition to endogenous depression in the Russian population
Authors:   Faculty of Fundamental Medicine, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia, Karagyaur M. N. ,   Institute for Regenerative Medicine, Medical Research and Education Center, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia, Primak A. L. ,   Faculty of Fundamental Medicine, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia, Bozov K. D. ,   Faculty of Fundamental Medicine, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia, Sheleg D. A. ,   Faculty of Fundamental Medicine, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia; FSBEI HE A. I. Yevdokimov Moscow State University of Medicine and Dentistry of the Ministry of Health of the Russian Federation, Moscow, Russia, Arbatskiy M. S. ,   Faculty of Fundamental Medicine, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia, Dzhauari S. S. ,   Faculty of Fundamental Medicine, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia, Illarionova M. E. ,   Faculty of Fundamental Medicine, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia, Semina E. V. ,   Faculty of Fundamental Medicine, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia; Institute for Regenerative Medicine, Medical Research and Education Center, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia, Samokhodskaya L. M. ,   Institute for Regenerative Medicine, Medical Research and Education Center, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia, Klimovich P. S. ,   Faculty of Fundamental Medicine, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia, Drach M. D. ,   Faculty of Fundamental Medicine, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia, Velichko A. Ya. ,   Faculty of Fundamental Medicine, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia, Sotskaya E. A. ,   Faculty of Fundamental Medicine, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia, Popov V. S. ,   Faculty of Fundamental Medicine, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia; Institute for Regenerative Medicine, Medical Research and Education Center, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia, Rubina K. A. ,   Faculty of Fundamental Medicine, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia, Parfenenko M. A. ,   Faculty of Fundamental Medicine, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia, Makus Yu. V. ,   Faculty of Fundamental Medicine, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia, Tsygankov B. D. ,   Faculty of Fundamental Medicine, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia; FSBEI HE A. I. Yevdokimov Moscow State University of Medicine and Dentistry of the Ministry of Health of the Russian Federation, Moscow, Russia, Tkachuk V. A. ,   Faculty of Fundamental Medicine, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia; Institute for Regenerative Medicine, Medical Research and Education Center, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia, Neyfeld E. A. ,   Faculty of Fundamental Medicine, FSBEI HPE Lomonosov Moscow State University, Moscow, Russia; FSBEI HE A. I. Yevdokimov Moscow State University of Medicine and Dentistry of the Ministry of Health of the Russian Federation, Moscow, Russia
Published: February 2024

Recent research indicates that some types of mental illnesses (schizophrenia, autism, depressive disorders) may be associated with impaired functioning of a number of genes, including those involved in brain morphogenesis. To assess the possible contribution of brain morphogenesis genes in the formation of predisposition to depressive disorders in Russian population, we performed whole-exome sequencing of genomic DNA of such patients. We identified 166 missense genomic variants in 66 genes (out of 140 studied) involved in the formation of brain tissue. The prevalence of some of them was estimated by allele-specific PCR. For the first time, a significantly higher frequency of occurrence of genomic variants rs17445840‑T (CDH2 gene), rs12923655‑C (CDH3 gene), rs1227051‑G/A (CDH23 gene), and rs12500437‑G/T (DCHS2 gene) was shown in a group of patients suffering from endogenous depressive disorder, and an association of some of the identified genomic variants with gender was established. The data obtained confirm the previously stated assumption that genes of brain tissue morphogenesis may be associated with a predisposition to the development of mental and cognitive disorders. The functional significance of the identified genetic variants remains to be established. The identification of pathogenic genomic variants with the confirmation of their functional significance allows better understanding of the pathogenesis of mental disorders and opens prospects for the development of approaches to objective diagnosis of such diseases, their early prevention, and pathogenetic therapy.