An analysis of the relationship between genetic factors and the risk of schizophrenia

Shmakova A.A.; Semina E.V.; Neyfeld E.A.; Tsygankov B.D.; Karagyaur M.N.

doi:https://doi.org/10.17116/jnevro202312302126

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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.

Keywords:

schizophrenia

GWAS

rare variants

CNV

whole exome sequencing

Authors:

Shmakova A.A.

Koltzov Institute of Developmental Biology

Semina E.V.

Lomonosov Moscow State University;
Chazov National Medical Research Centre of Cardiology

Neyfeld E.A.

Lomonosov Moscow State University

Tsygankov B.D.

Evdokimov Moscow State University of Medicine and Dentistry

Karagyaur M.N.

Lomonosov Moscow State University;
Institute for Regenerative Medicine — Lomonosov Moscow State University

Received:

24.08.2022

Accepted:

18.10.2022

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References:

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