medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2022.08.9-12medgen-2122Research ArticleКРАТКОЕ СООБЩЕНИЕBRIEF REPORTВлияние генетического варианта риска шизофрении в локусе ZNF804A и наличия алкоголизма в родительской семье на дефицит распознавания эмоций при шизофренииInfluence of a genetic variant of schizophrenia risk at the ZNF804A locus and the presence of alcoholism in the parental family on the deficiency of emotion recognition in schizophreniaЛежейкоТ. В.LezheikoT. V.lezheiko@list.ruАлфимоваМ. В.AlfimovaM. V.noemail@neicon.ruГолимбетВ. Е.GolimbetV. E.noemail@neicon.ruФГБНУ «Научный центр психического здоровья»РоссияMental Health Research CenterRussian Federation202208122022218912Copyright © Лежейко Т.В., Алфимова М.В., Голимбет В.Е., 20222022Лежейко Т.В., Алфимова М.В., Голимбет В.Е.Lezheiko T.V., Alfimova M.V., Golimbet V.E.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/2122

В последние десятилетия особое внимание при изучении шизофрении уделяется особенностям распознавания эмоций и влияния как генетических так и средовых факторов на развитие индивида и риск развития психических заболеваний. Существует предположение, что нарушения распознавания эмоций являются одним из эндофенотипов заболевания. Установлена важная роль нарушения социальных когниций, и, в частности, распознавания эмоций, в социальной адаптации больных шизофренией. Установление роли генетических и средовых факторов риска шизофрении в этих нарушениях является важным шагом к формированию терапевтических подходов к их коррекции. Цель - оценить связь полиморфизма rs1344706 гена ZNF804A и неблагоприятной среды в детстве (наличия алкоголизма в родительской семье) на распознавание эмоций у больных. Методы. Выборка состояла из 854 больных, разделенных на две группы: с алкоголизмом в родительской семье и без него. Для оценки распознавания мимической экспрессии эмоций использовали фотографии шести базовых и трех социальных эмоций. Генотипирование проводили методом HRM. Результаты. Обнаружен эффект взаимодействия между генетическим вариантом ZNF804A (rs1344706) и злоупотреблением алкоголем одним из родителей пробанда на нарушение распознавания эмоций (p=0,02). Больные с генотипом АА хуже распознавали эмоции, чем больные с генотипом СС. Заключение. Результаты позволяют предположить важную роль взаимодействия генов риска шизофрении, связанных с нейроразвитием, и ранних средовых стрессоров в аномалиях социальных когниций при шизофрении.

Background. In recent decades, special attention in the study of schizophrenia has been paid to the features of emotion recognition and the influence of both genetic and environmental factors on the development of the individual and the risk of developing mental illness. There is an assumption that disorders of emotion recognition are one of the endophenotypes of the disease. The important role of the violation of social cognitions, and in particular the recognition of emotions, in the social adaptation of patients with schizophrenia has been established. Establishing the role of genetic and environmental risk factors for schizophrenia in these disorders is an important step towards the formation of therapeutic approaches to their correction. Aim - to assess the contribution of the rs1344706 polymorphism of the ZNF804A gene and an unfavorable environment in childhood (the presence of alcoholism in the parental family) to the recognition of emotions in patients. Methods. The sample consisted of 854 patients divided into two groups: with alcoholism in the parental family and without it. To assess the recognition of mimic expression of emotions, photographs of six basic and three social emotions were used. Genotyping was performed by the HRM method. Results. An interaction effect between the genetic variant ZNF804A (rs1344706) and alcohol abuse by one of the proband’s parents on impairment of emotion recognition was found (p=0.02). Patients with the AA genotype were worse at recognizing emotions than those with the CC genotype. Conclusion. The results suggest an important role for the interaction of neurodevelopmentally associated schizophrenia risk genes and early environmental stressors in social cognition anomalies in schizophrenia.

шизофренияполиморфизмсоциальные когнициинеблагоприятный детский опытschizophreniapolymorphismsocial cognitionadverse childhood experienceReferencesHooker C., Park S. Emotion processing and its relationship to social functioning in schizophrenia patients. Psychiatry Research.2002;112(1): 41-50. doi:10.1016/S0165-1781(02)00177-4Hooker C., Park S. Emotion processing and its relationship to social functioning in schizophrenia patients. Psychiatry Research.2002;112(1): 41-50. doi:10.1016/S0165-1781(02)00177-4Penn D.L., Combs S.R., Ritchie M., et al. Emotion recognition in schizophrenia: further investigation of generalized versus specific deficit models. Journal of Abnormal Psychology.2000;109(3):512-516. doi: 10.1037//002I-843X. 109.3.512Penn D.L., Combs S.R., Ritchie M., et al. Emotion recognition in schizophrenia: further investigation of generalized versus specific deficit models. Journal of Abnormal Psychology.2000;109(3):512-516. doi: 10.1037//002I-843X. 109.3.512Kee K.S., Green M.F., Mintz J. M., Brekke J.S. Is emotion processing a predictor of functional outcome in schizophrenia? Schizophrenia Bulletin.2003;29:487-497. doi.org/10.1093/oxfordjournals.schbul.a007021Kee K.S., Green M.F., Mintz J. M., Brekke J.S. Is emotion processing a predictor of functional outcome in schizophrenia? Schizophrenia Bulletin.2003;29:487-497. doi.org/10.1093/oxfordjournals.schbul.a007021Goghari V.M., Sponheim S.R. More Pronounced Deficits in Facial Emotion Recognition for Schizophrenia than Bipolar Disorder.Compr Psychiatry.2013;54(4):388-397. doi: 10.1016/j.comppsych.2012.10.012Goghari V.M., Sponheim S.R. More Pronounced Deficits in Facial Emotion Recognition for Schizophrenia than Bipolar Disorder.Compr Psychiatry.2013;54(4):388-397. doi: 10.1016/j.comppsych.2012.10.012Liu S., Ma R., Luo Y., et al. Facial Expression Recognition and ReHo Analysis in Major Depressive Disorder. Front Psycho.2021;22(12). doi: 10.3389/fpsyg.2021.688376.Liu S., Ma R., Luo Y., et al. Facial Expression Recognition and ReHo Analysis in Major Depressive Disorder. Front Psycho.2021;22(12). doi: 10.3389/fpsyg.2021.688376.Martin D., Croft J., Pitt A., Strelchuk D., Sullivan S., Zammit S. Systematic review and meta-analysis of the relationship between genetic risk for schizophrenia and facial emotion recognition. Schizophr Res. 2020;218:7-13. doi: 10.1016/j.schres.2019.12.031Martin D., Croft J., Pitt A., Strelchuk D., Sullivan S., Zammit S. Systematic review and meta-analysis of the relationship between genetic risk for schizophrenia and facial emotion recognition. Schizophr Res. 2020;218:7-13. doi: 10.1016/j.schres.2019.12.031Bilgi M.M., Taspinar S., Aksoy B., Oguz K., Coburn K., et al. The relationship between childhood trauma, emotion recognition, and irritability in schizophrenia patients. Psychiatry Res. 2017;251:90-96. doi: 10.1016/j.psychres.2017.01.091Bilgi M.M., Taspinar S., Aksoy B., Oguz K., Coburn K., et al. The relationship between childhood trauma, emotion recognition, and irritability in schizophrenia patients. Psychiatry Res. 2017;251:90-96. doi: 10.1016/j.psychres.2017.01.091Rokita K.I., Dauvermann M.R., Mothersill D., Holleran L., et al. Childhood trauma, parental bonding, and social cognition in patients with schizophrenia and healthy adults. J Clin Psychol. 2021;77(1):241-253. doi: 10.1002/jclp.23023)Rokita K.I., Dauvermann M.R., Mothersill D., Holleran L., et al. Childhood trauma, parental bonding, and social cognition in patients with schizophrenia and healthy adults. J Clin Psychol. 2021;77(1):241-253. doi: 10.1002/jclp.23023)Алфимова М.В., Голимбет В.Е., Коровайцева Г.И., Лежейко Т.В., Абрамова Л.И., Аксенова Е.В., Болгов М.И. Влияние полиморфизма 5-HTTLPR гена переносчика серотонина на распознавание мимически выражаемых эмоций при шизофрении. Журнал неврологии и психиатрии им. С.С. Корсакова. 2014;114(1):42-48.Алфимова М.В., Голимбет В.Е., Коровайцева Г.И., Лежейко Т.В., Абрамова Л.И., Аксенова Е.В., Болгов М.И. Влияние полиморфизма 5-HTTLPR гена переносчика серотонина на распознавание мимически выражаемых эмоций при шизофрении. Журнал неврологии и психиатрии им. С.С. Корсакова. 2014;114(1):42-48.Raab K., Kirsch P., Mier D. Understanding the impact of 5-HTTLPR, antidepressants, and acute tryptophan depletion on brain activation during facial emotion processing: A review of the imaging literature. Neurosci Biobehav Rev. 2016;71:176-197. doi: 10.1016/j.neubiorev.2016.08.031)Raab K., Kirsch P., Mier D. Understanding the impact of 5-HTTLPR, antidepressants, and acute tryptophan depletion on brain activation during facial emotion processing: A review of the imaging literature. Neurosci Biobehav Rev. 2016;71:176-197. doi: 10.1016/j.neubiorev.2016.08.031)Lee K.W., Woon P.S., Teo Y.Y., Sim K. Genome wide association studies (GWAS) and copy number variation (CNV) studies of the major psychoses: what have we learnt? Neurosci Biobehav Rev. 2012;36(1):556-71. doi: 10.1016/.Lee K.W., Woon P.S., Teo Y.Y., Sim K. Genome wide association studies (GWAS) and copy number variation (CNV) studies of the major psychoses: what have we learnt? Neurosci Biobehav Rev. 2012;36(1):556-71. doi: 10.1016/.Esmaeili A., Solimani S., Karimi F., Miri-Moghaddam E. Association between rs1344706 Polymorphism in the ZNF804A Gene and the Risk for Schizophrenia Iran J Psychiatry. 2021;16(4):383-388. doi: 10.18502/ijps.v16i4.7225.Esmaeili A., Solimani S., Karimi F., Miri-Moghaddam E. Association between rs1344706 Polymorphism in the ZNF804A Gene and the Risk for Schizophrenia Iran J Psychiatry. 2021;16(4):383-388. doi: 10.18502/ijps.v16i4.7225.Lezheiko T.V., Romanov D.V., Kolesina N.Yu., Golimbet V.E. Data on association of the variation (rs1344706) in the ZNF804A gene with schizophrenia and its symptoms in the Russian population. Data Brief. 2019;(9) 24:103985. doi: 10.1016/j.dib.2019.103985.Lezheiko T.V., Romanov D.V., Kolesina N.Yu., Golimbet V.E. Data on association of the variation (rs1344706) in the ZNF804A gene with schizophrenia and its symptoms in the Russian population. Data Brief. 2019;(9) 24:103985. doi: 10.1016/j.dib.2019.103985.Hill M.J., Bray N.J. Evidence that schizophrenia risk variation in the ZNF804A gene exerts its effects during fetal brain development. American Journal of Psychiatry. 2012;169(12):1301-1308. doi: 10.1176/appi.ajp.2012.11121845Hill M.J., Bray N.J. Evidence that schizophrenia risk variation in the ZNF804A gene exerts its effects during fetal brain development. American Journal of Psychiatry. 2012;169(12):1301-1308. doi: 10.1176/appi.ajp.2012.11121845Alfimova M.V., Abramova L.I., Barhatova A.I., Yumatova P.E., et al. Facial Affect Recognition Deficit as a Marker of Genetic Vulnerability to Schizophrenia. Span J Psychology. 2009;(12): 46-55. doi: 10.1017/s1138741600001463.Alfimova M.V., Abramova L.I., Barhatova A.I., Yumatova P.E., et al. Facial Affect Recognition Deficit as a Marker of Genetic Vulnerability to Schizophrenia. Span J Psychology. 2009;(12): 46-55. doi: 10.1017/s1138741600001463.Лежейко Т.В., Габаева М.В., Крикова Е.В., и др. Полиморфизм гена ZNF804A rs1344706 и клиническая гетерогенность шизофрении. Научные результаты биомедицинских исследований. 2020;6(1): 51-62. DOI: 10.18413/2658-6533-2020-6-1-0-5Лежейко Т.В., Габаева М.В., Крикова Е.В., и др. Полиморфизм гена ZNF804A rs1344706 и клиническая гетерогенность шизофрении. Научные результаты биомедицинских исследований. 2020;6(1): 51-62. DOI: 10.18413/2658-6533-2020-6-1-0-5Alfimova M.V., Nikitina S.G., Lezheiko T.V., Simashkova N.V., Golimbet V.E. Impact on the Risk and Severity of Childhood Onset Schizophrenia of Schizophrenia Risk Genetic Variants at the DRD2 and ZNF804A Loci. Child Psychiatry Hum Dev. 2021; 15. doi: 10.1007/s10578-021-01245Alfimova M.V., Nikitina S.G., Lezheiko T.V., Simashkova N.V., Golimbet V.E. Impact on the Risk and Severity of Childhood Onset Schizophrenia of Schizophrenia Risk Genetic Variants at the DRD2 and ZNF804A Loci. Child Psychiatry Hum Dev. 2021; 15. doi: 10.1007/s10578-021-01245Donohoe G., Morris D.W., Corvin A. The psychosis susceptibility gene ZNF804A: associations, functions, and phenotypes. Schizophr Bull. 2010;(36):904-90911. doi: 10.1093/.Donohoe G., Morris D.W., Corvin A. The psychosis susceptibility gene ZNF804A: associations, functions, and phenotypes. Schizophr Bull. 2010;(36):904-90911. doi: 10.1093/.Irani F., Seligman S., Kamath V., Kohler C., Gur R.C. A meta-analysis of emotion perception and functional outcomes in schizophrenia. Schizophr Res 2012;(137): 203-211 doi: 10.1016/j.schres.2012.01.023.Irani F., Seligman S., Kamath V., Kohler C., Gur R.C. A meta-analysis of emotion perception and functional outcomes in schizophrenia. Schizophr Res 2012;(137): 203-211 doi: 10.1016/j.schres.2012.01.023.

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