medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2021.06.27-32medgen-1940Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHСтруктурные особенности гена SIRT1 у жителей сибирского регионаStructural features of the gene SIRT1 in residents of the Siberian regionБердюгинаД. А.BerdyuginaD. A.berduginada@physiol.ruСавостьяновА. Н.SavostyanovA. N.noemail@neicon.ruБазовкинаД. В.BazovkinaD. V.noemail@neicon.ruКоваленкоС. П.KovalenkoS. P.noemail@neicon.ruАфтанасЛ. И.AftanasL. I.noemail@neicon.ruФГБНУ «Научно-исследовательский институт нейронаук и медицины»РоссияScientific-Research Institute of Neurosciences and MedicineRussian FederationФГБНУ «Научно-исследовательский институт нейронаук и медицины»; ФГБНУ «Федеральный исследовательский центр Институт цитологии и генетики Сибирского отделения Российской академии наук»РоссияScientific-Research Institute of Neurosciences and Medicine; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of SciencesRussian FederationФГБНУ «Федеральный исследовательский центр фундаментальной и трансляционной медицины»РоссияFederal Research Center of Fundamental and Translational MedicineRussian Federation2021281020212062732Copyright © Бердюгина Д.А., Савостьянов А.Н., Базовкина Д.В., Коваленко С.П., Афтанас Л.И., 20212021Бердюгина Д.А., Савостьянов А.Н., Базовкина Д.В., Коваленко С.П., Афтанас Л.И.Berdyugina D.A., Savostyanov A.N., Bazovkina D.V., Kovalenko S.P., Aftanas L.I.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/1940

Депрессия - многофакторное психическое расстройство, являющееся одной из основных причин инвалидности и приводящее к самоубийству в 15% случаев. Активный поиск генетической компоненты депрессии выявил ряд генов-кандидатов, ассоциированных с депрессией. Недавние исследования продемонстрировали ассоциацию ряда полиморфных вариантов гена SIRT1 с депрессией. В то же время остается неизученной специфика распределения полиморфных вариантов в гене SIRT1 в различных популяциях, что может быть существенным при анализе ассоциаций. Нами была изучена структура кодирующей часть гена SIRT1 в популяциях якутов, тувинцев и жителей Новосибирска. В зависимости от этнической группы наблюдалось изменение частот встречаемости полиморфных вариантов.

Depression is a multifactorial mental disorder that is one of the main causes of disability and leads to suicide in 15% of cases. An active search for the genetic component of depression has identified a number of candidate genes that correlate with depression. Recent studies have demonstrated the association of a number of polymorphic variants of the SIRT1 gene with depression. At the same time, the specificity of the distribution of polymorphic variants in the SIRT1 gene among different populations remains unexplored, which may be significant in the analysis of associations. We have studied the structure of the coding part of the SIRT1 gene in the populations of Yakuts, Tuvans, and residents of Novosibirsk. Depending on the ethnic group, there was a change in the frequency of occurrence of polymorphic variants.

SIRT1большое депрессивное расстройствоякутытувинцытаргетное секвенированиеSIRT1major depressive disorderYakutsTuvanstargeted sequencingReferencesMöller H.J. Suicide, suicidality and suicide prevention in affective disorders. Acta Psychiatrica Scandinavica. 2003; 108(s418):73-80.Möller H.J. Suicide, suicidality and suicide prevention in affective disorders. Acta Psychiatrica Scandinavica. 2003; 108(s418):73-80.McKenna M. et al. Assessing the Burden of Disease in the United States Using Disability-Adjusted Life Years. American Journal of Preventive Medicine. 2005; 28(5): 415-423.McKenna M. et al. Assessing the Burden of Disease in the United States Using Disability-Adjusted Life Years. American Journal of Preventive Medicine. 2005; 28(5): 415-423.Alegria M. et al. Disparity in Depression Treatment Among Racial and Ethnic Minority Populations in the United States. Psychiatric Services. American Psychiatric Association Publishing. 2008; 59(11): 1264-1272.Alegria M. et al. Disparity in Depression Treatment Among Racial and Ethnic Minority Populations in the United States. Psychiatric Services. American Psychiatric Association Publishing. 2008; 59(11): 1264-1272.González H.M. et al. The epidemiology of major depression and ethnicity in the United States. Journal of Psychiatric Research. 2010; 44(15): 1043-1051.González H.M. et al. The epidemiology of major depression and ethnicity in the United States. Journal of Psychiatric Research. 2010; 44(15): 1043-1051.Williams E.D. et al. Depressive symptoms are doubled in older British South Asian and Black Caribbean people compared with Europeans: Associations with excess co-morbidity and socioeconomic disadvantage. Psychological Medicine. 2015; 45(9): 1861-1871.Williams E.D. et al. Depressive symptoms are doubled in older British South Asian and Black Caribbean people compared with Europeans: Associations with excess co-morbidity and socioeconomic disadvantage. Psychological Medicine. 2015; 45(9): 1861-1871.Haverkamp G.L.G. et al. Psychological distress in the hospital setting: A comparison between native Dutch and immigrant patients. PLoS ONE. 2015; 10(6):e0130961. doi: 10.1371/journal.pone.0130961.Haverkamp G.L.G. et al. Psychological distress in the hospital setting: A comparison between native Dutch and immigrant patients. PLoS ONE. 2015; 10(6):e0130961. doi: 10.1371/journal.pone.0130961.Schouten R.W. et al. Ethnic Differences in the Association of Depressive Symptoms with Clinical Outcome in Dialysis Patients. Journal of Racial and Ethnic Health Disparities. 2019; 6(5): 990-1000.Schouten R.W. et al. Ethnic Differences in the Association of Depressive Symptoms with Clinical Outcome in Dialysis Patients. Journal of Racial and Ethnic Health Disparities. 2019; 6(5): 990-1000.Bigdeli T.B. et al. Genetic effects influencing risk for major depressive disorder in China and Europe. Translational Psychiatry. 2017; 7(3): e1074.Bigdeli T.B. et al. Genetic effects influencing risk for major depressive disorder in China and Europe. Translational Psychiatry. 2017; 7(3): e1074.Sullivan P.F. et al. A mega-analysis of genome-wide association studies for major depressive disorder. Molecular Psychiatry. 2013; 18(4): 497-511.Sullivan P.F. et al. A mega-analysis of genome-wide association studies for major depressive disorder. Molecular Psychiatry. 2013; 18(4): 497-511.Consortium C. Sparse whole-genome sequencing identifies two loci for major depressive disorder. Nature. 2015; 523(7562): 588-591.Consortium C. Sparse whole-genome sequencing identifies two loci for major depressive disorder. Nature. 2015; 523(7562): 588-591.Sullivan P.F., Neale M.C., Kendler K.S. Genetic Epidemiology of Major Depression: Review and Meta-Analysis. American Journal of Psychiatry. 2000; 157(10): 1552-1562.Sullivan P.F., Neale M.C., Kendler K.S. Genetic Epidemiology of Major Depression: Review and Meta-Analysis. American Journal of Psychiatry. 2000; 157(10): 1552-1562.Eley T.C., Stevenson J. Exploring the Covariation between Anxiety and Depression Symptoms: A Genetic Analysis of the Effects of Age and Sex // Journal of Child Psychology and Psychiatry. 1999; 40(8): 1273-1282.Eley T.C., Stevenson J. Exploring the Covariation between Anxiety and Depression Symptoms: A Genetic Analysis of the Effects of Age and Sex // Journal of Child Psychology and Psychiatry. 1999; 40(8): 1273-1282.Muglia P. et al. Genome-wide association study of recurrent major depressive disorder in two European case-control cohorts. Molecular Psychiatry. 2010; 15(6): 589-601.Muglia P. et al. Genome-wide association study of recurrent major depressive disorder in two European case-control cohorts. Molecular Psychiatry. 2010; 15(6): 589-601.Millan M.J. Multi-target strategies for the improved treatment of depressive states: Conceptual foundations and neuronal substrates, drug discovery and therapeutic application. Pharmacology and Therapeutics. 2006; 110(2): 135-370.Millan M.J. Multi-target strategies for the improved treatment of depressive states: Conceptual foundations and neuronal substrates, drug discovery and therapeutic application. Pharmacology and Therapeutics. 2006; 110(2): 135-370.Nestler E.J. et al. Neurobiology of depression. Neuron. 2002; 34(1): 13-25.Nestler E.J. et al. Neurobiology of depression. Neuron. 2002; 34(1): 13-25.Lacerda-Pinheiro S.F. et al. Are there depression and anxiety genetic markers and mutations? A systematic review. Journal of Affective Disorders. 2014; 168: 387-398.Lacerda-Pinheiro S.F. et al. Are there depression and anxiety genetic markers and mutations? A systematic review. Journal of Affective Disorders. 2014; 168: 387-398.López-León S. et al. Meta-analyses of genetic studies on major depressive disorder. Molecular Psychiatry. 2008; 13(8): 772-785.López-León S. et al. Meta-analyses of genetic studies on major depressive disorder. Molecular Psychiatry. 2008; 13(8): 772-785.Saavedra K. et al. Epigenetic Modifications of Major Depressive Disorder. International Journal of Molecular Sciences. 2016; 17(8): 1279.Saavedra K. et al. Epigenetic Modifications of Major Depressive Disorder. International Journal of Molecular Sciences. 2016; 17(8): 1279.Hattori E. et al. Preliminary genome-wide association study of bipolar disorder in the Japanese population. American journal of medical genetics. Part B, Neuropsychiatric genetics. 2009; 150B(8): 1110-1117.Hattori E. et al. Preliminary genome-wide association study of bipolar disorder in the Japanese population. American journal of medical genetics. Part B, Neuropsychiatric genetics. 2009; 150B(8): 1110-1117.Kohli M.A. et al. The Neuronal Transporter Gene SLC6A15 Confers Risk to Major Depression. Neuron. 2011; 70(2): 252-265.Kohli M.A. et al. The Neuronal Transporter Gene SLC6A15 Confers Risk to Major Depression. Neuron. 2011; 70(2): 252-265.Kovanen L., Donner K., Partonen T. SIRT1 polymorphisms associate with seasonal weight variation, depressive disorders, and diastolic blood pressure in the general population. PLoS ONE. 2015$ 10(10): e0141001. doi: 10.1371/journal.pone.0141001.Kovanen L., Donner K., Partonen T. SIRT1 polymorphisms associate with seasonal weight variation, depressive disorders, and diastolic blood pressure in the general population. PLoS ONE. 2015$ 10(10): e0141001. doi: 10.1371/journal.pone.0141001.Hyde C.L. et al. Identification of 15 genetic loci associated with risk of major depression in individuals of European descent. Nature genetics. 2016; 48(9):1031-1036.Hyde C.L. et al. Identification of 15 genetic loci associated with risk of major depression in individuals of European descent. Nature genetics. 2016; 48(9):1031-1036.Wray N.R. et al. Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. Nature Genetics. 2018; 50(5): 668-681.Wray N.R. et al. Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. Nature Genetics. 2018; 50(5): 668-681.Tang W. et al. SIRT1 rs3758391 and Major Depressive Disorder: New Data and Meta-Analysis. Neuroscience Bulletin. 2018; 34(5): 863-866.Tang W. et al. SIRT1 rs3758391 and Major Depressive Disorder: New Data and Meta-Analysis. Neuroscience Bulletin. 2018; 34(5): 863-866.Zhu Z. et al. Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis. European Respiratory Journal. 2019; 54(6): 1901507.Zhu Z. et al. Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis. European Respiratory Journal. 2019; 54(6): 1901507.Aftanas L.I. et al. SIRT1 Allele Frequencies in Depressed Patients of European Descent in Russia. Frontiers in Genetics. 2019; 9, 686.Aftanas L.I. et al. SIRT1 Allele Frequencies in Depressed Patients of European Descent in Russia. Frontiers in Genetics. 2019; 9, 686.Leheste J.R., Torres G. Resveratrol: brain effects on SIRT1, GPR50 and photoperiodic signaling. Frontiers in Molecular Neuroscience. 2015; 8:61.Leheste J.R., Torres G. Resveratrol: brain effects on SIRT1, GPR50 and photoperiodic signaling. Frontiers in Molecular Neuroscience. 2015; 8:61.Liu W. et al. The depression GWAS risk allele predicts smaller cerebellar gray matter volume and reduced SIRT1 mRNA expression in Chinese population. Translational Psychiatry. 2019; 9(1):333.Liu W. et al. The depression GWAS risk allele predicts smaller cerebellar gray matter volume and reduced SIRT1 mRNA expression in Chinese population. Translational Psychiatry. 2019; 9(1):333.Li C. et al. miR-138 increases depressive-like behaviors by targeting SIRT1 in hippocampus. Neuropsychiatric Disease and Treatment. 2020; 16: 949-957.Li C. et al. miR-138 increases depressive-like behaviors by targeting SIRT1 in hippocampus. Neuropsychiatric Disease and Treatment. 2020; 16: 949-957.Luo X.-J., Zhang C. Down-Regulation of SIRT1 Gene Expression in Major Depressive Disorder. American Journal of Psychiatry. 2016; 173(10): 1046-1046.Luo X.-J., Zhang C. Down-Regulation of SIRT1 Gene Expression in Major Depressive Disorder. American Journal of Psychiatry. 2016; 173(10): 1046-1046.Lin R. et al. Common variants in SIRT1 and human longevity in a Chinese population. BMC Medical Genetics. 2016; 17(1): 1-7.Lin R. et al. Common variants in SIRT1 and human longevity in a Chinese population. BMC Medical Genetics. 2016; 17(1): 1-7.Tagliari C.F. da S. et al. Investigation of SIRT1 gene variants in HIV-associated lipodystrophy and metabolic syndrome. Genetics and Molecular Biology. 2020; 43(1): 1-9.Tagliari C.F. da S. et al. Investigation of SIRT1 gene variants in HIV-associated lipodystrophy and metabolic syndrome. Genetics and Molecular Biology. 2020; 43(1): 1-9.Clarke T.-K. et al. Investigating shared aetiology between type 2 diabetes and major depressive disorder in a population based cohort. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 2017; 174(3): 227-234.Clarke T.-K. et al. Investigating shared aetiology between type 2 diabetes and major depressive disorder in a population based cohort. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 2017; 174(3): 227-234.

The authors declare that there are no conflicts of interest present.