期刊
JOURNAL OF NEUROCHEMISTRY
卷 159, 期 4, 页码 647-659出版社
WILEY
DOI: 10.1111/jnc.15514
关键词
autism spectrum disorder; enrichment analysis; gene ontology; neurodevelopmental disorder; protein-protein interaction network; schizophrenia
资金
- Japan Society for the Promotion of Science [16H06316, 16H06463, 21K07820, 21H04813, 21H00202]
- NCNP [30-9]
- Takeda Science Foundation
- Smoking Research Foundation
- SENSHIN Medical Research Foundation
- Tokyo Biochemical Research Foundation
- Research Foundation for Opto-Science and Technology
- Hyogo Science and Technology Association
- Kawano Masanori Memorial Public Interest Incorporated Foundation for Promotion of Pediatrics
- Taiju Life Social Welfare Foundation
- Grants-in-Aid for Scientific Research [21H00202, 21K07820, 21H04813] Funding Source: KAKEN
The genetic and phenotypic heterogeneity of autism spectrum disorder (ASD) hinders the unified explanation of its complex features. Recent psychiatric genetic studies have identified numerous risk genes and chromosome loci, enabling analysis at the single gene level and utilizing system-level approaches. Comparing data of ASD with other major psychiatric disorders can reveal the unique characteristics of both diseases.
The genetic and phenotypic heterogeneity of autism spectrum disorder (ASD) impedes the unification of multiple biological hypotheses in an attempt to explain the complex features of ASD, such as impaired social communication, social interaction deficits, and restricted and repetitive patterns of behavior. However, recent psychiatric genetic studies have identified numerous risk genes and chromosome loci (copy number variation: CNV) which enable us to analyze at the single gene level and utilize system-level approaches. In this review, we focus on ASD as a major neurodevelopmental disorder and review recent findings mainly from the bioinformatics of omics studies. Additionally, by comparing these data with other major psychiatric disorders, including schizophrenia (SCZ), we identify unique characteristics of both diseases from multiple enrichment, pathway, and protein-protein interaction networks (PPIs) analyses using susceptible genes found in recent large-scale genetic studies. These unified, systematic approaches highlight unique characteristics of both disorders from multiple aspects and demonstrate how convergent pathways can contribute to an understanding of the complex etiology of such neurodevelopmental and neuropsychiatric disorders.
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