[An analysis of the relationship between genetic factors and the risk of schizophrenia].

A A Shmakova, E V Semina, E A Neyfeld, B D Tsygankov, M N Karagyaur
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Abstract

The etiology and pathogenesis of schizophrenia remain poorly understood, but it has been established that the contribution of heredity to the development of the disease is about 80-85%. Over the past decade, significant progress has been made in the search for specific genetic variants associated with the development of schizophrenia. The review discusses the results of modern large-scale studies aimed at searching for genetic associations with schizophrenia: genome-wide association studies (GWAS) and the search for rare variants (mutations or copy number variations, CNV), including the use of whole exome sequencing. We synthesize data on currently known genes that are significantly associated with schizophrenia and discuss their biological functions in order to identify the main molecular pathways involved in the pathophysiology of schizophrenia.

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[遗传因素与精神分裂症风险的关系分析]。
精神分裂症的病因和发病机制尚不清楚,但已经确定遗传对疾病发展的贡献约为80-85%。在过去的十年中,在寻找与精神分裂症发展相关的特定遗传变异方面取得了重大进展。这篇综述讨论了旨在寻找与精神分裂症遗传关联的现代大规模研究的结果:全基因组关联研究(GWAS)和寻找罕见变异(突变或拷贝数变异,CNV),包括使用全外显子组测序。我们综合了目前已知的与精神分裂症显著相关的基因数据,并讨论了它们的生物学功能,以确定参与精神分裂症病理生理的主要分子途径。
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来源期刊
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova Medicine-Psychiatry and Mental Health
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0.80
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