Preliminary disclosure of genetic regulation mechanism of schizophrenia risk

Preliminary disclosure of genetic regulation mechanism of schizophrenia risk

February 21, 2019 Source: Science and Technology Daily Author: Zhao Hanbin

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The reporter learned from the Kunming Institute of Zoology, Chinese Academy of Sciences on the 20th that the researchers used functional genomics methods to reveal the regulation mechanism of genetic variation of schizophrenia on target genes, providing new ideas for further analysis of the genetic mechanism of schizophrenia. . The research results have been published online in the journal Nature, Newsletter.

Schizophrenia is a serious mental illness characterized by positive, negative and cognitive impairments affecting approximately 1% of the world's population. Due to the complex etiology, recurrent episodes and most of the disease in young adults, schizophrenia seriously affects the lives of patients, and it also imposes a heavy burden on family members and society. The heritability of this condition is as high as 80%, indicating that genetic factors play an important role in the occurrence of schizophrenia. Due to the complexity of gene regulation and other reasons, it is still unclear what mechanism of 180 risk genetic mutations previously identified affects the occurrence of the disease.

The author of the paper, Researcher Luo Xiongjian, from the Department of Neuropsychiatry, Kunming Institute of Zoology, Chinese Academy of Sciences, introduced that in order to explore how risk genetic variation affects gene expression and susceptibility to schizophrenia, they systematically studied schizophrenia using functional genomics methods. The regulatory mechanism of genetic variation in genes. By integrating chromatin immunoprecipitation-high-throughput sequencing and positional weight matrix data, 132 risk single nucleotide polymorphisms (SNPs) were identified that disrupted binding to transcription factors. Consistent with functional genomics results, reporter gene assays and allele-specific expression analysis support this regulatory effect, and further analysis indicates that 97 of the 132 SNPs that bind to transcription factor binding are involved in human brain tissue and genes. The expression was significantly correlated.

In addition to preliminary understanding of the regulation of risk genetic variation on target genes, the research team also identified a number of target genes regulated by genetic variation of schizophrenia risk, which provides information on the genetic mechanism and pathogenesis of schizophrenia and future drug development. Important data.

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