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基于全基因组关联研究的抑郁症多基因风险评分及临床验证:俄罗斯人群中的方法与研究设计

[GWAS-based polygenic risk scores for depression with clinical validation: methods and study design in the Russian population].

作者信息

Kibitov A O, Mazo G E, Rakitko A S, Kasyanov E D, Rukavishnikov G V, Ilinsky V V, Golimbet V E, Shmukler A B, Neznanov N G

机构信息

Bekhterev National Medical Research Center for Psychiatry and Neurology, St. Petersburg, Russia.

Serbsky National Medical Research Center on Psychiatry and Addictions, Moscow, Russia.

出版信息

Zh Nevrol Psikhiatr Im S S Korsakova. 2020;120(11):131-140. doi: 10.17116/jnevro2020120111131.

Abstract

Depression is one of the leading causes of decreased quality of life and social functioning of patients. In the context of preventive medicine, the prevention of depression becomes a priority. To achieve the goals of prevention, it is necessary to identify specific population risk groups - individuals with a high genetic risk of depression. The paper describes the project aimed at developing a genetic test system based on polygenic risk scores (PRS) for depression, considering the multi-ethnicity and multicultural diversity of the Russian population. As a result of the study, data on the genetic architecture of depression (GWAS) and PRS for depression will be obtained for the first time. The emergence of a genetic test system developed in the study of the Russian population and in the conditions of a constant decrease in the cost of genetic research will allow an effective transition to preventive medicine in the area of mental health.

摘要

抑郁症是导致患者生活质量下降和社会功能受损的主要原因之一。在预防医学背景下,抑郁症的预防成为当务之急。为实现预防目标,有必要确定特定的人群风险群体——具有高抑郁症遗传风险的个体。本文描述了一个项目,该项目旨在基于多基因风险评分(PRS)开发一种针对抑郁症的基因检测系统,同时考虑到俄罗斯人口的多民族性和多元文化多样性。作为该研究的结果,将首次获得关于抑郁症遗传结构(全基因组关联研究,GWAS)和抑郁症PRS的数据。在俄罗斯人群研究中开发的基因检测系统的出现,以及基因研究成本持续下降的情况下,将有助于在心理健康领域有效转向预防医学。

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