Molecular signatures from multi-omics of autism spectrum disorders and schizophrenia.
Molecular signatures from multi-omics of autism spectrum disorders and schizophrenia.
复制标题
自闭症谱系障碍和精神分裂症多组学的分子特征。
作者：
Nomura J;Mardo M;Takumi T
自闭症谱系障碍（ASD）的遗传和表型异质性阻碍了多种生物学假说的统一，这些假说试图解释ASD的复杂特征，如社会沟通障碍、社会互动缺陷、限制和重复的行为模式。然而，最近的精神病学遗传学研究已经确定了许多风险基因和染色体位点（拷贝数变异：CNV），这使我们能够在单基因水平上分析并利用系统水平的方法。在这篇综述中，我们关注ASD作为一种主要的神经发育障碍，并主要从生物信息学的角度综述了最近的研究成果。此外，通过将这些数据与包括精神分裂症（SCZ）在内的其他主要精神疾病进行比较，我们利用最近大规模遗传研究中发现的易感基因，从多重富集、途径和蛋白质-蛋白质相互作用网络（PPIs）分析中确定了这两种疾病的独特特征。这些统一的、系统的方法从多个方面突出了这两种疾病的独特特征，并展示了趋同途径如何有助于理解这类神经发育和神经精神疾病的复杂病因。
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.