Microdeletion syndromes (MSs) are a heterogeneous group of genetic diseases that can virtually affect all functions and organs in humans. Although systems biology approaches integrating multiomics and database information into biological networks have expanded our knowledge of genetic disorders, cytogenomic network-based analysis has rarely been applied to study MSs. In this study, we analyzed data of 28 MSs, using network-based approaches, to investigate the associations between the critical chromosome regions and the respective underlying biological network systems. We identified MSs-associated proteins that were organized in a network of linked modules within the human interactome. Certain MSs formed highly interlinked self-contained disease modules. Furthermore, we observed disease modules involving proteins from other disease groups in the MSs interactome. Moreover, analysis of integrated data from 564 genes located in known chromosomal critical regions, including those contributing to topological parameters, shared pathways, and gene–disease associations, indicated that complex biological systems and cellular networks may underlie many genotype to phenotype associations in MSs. In conclusion, we used a network-based analysis to provide resources that may contribute to better understanding of the molecular pathways involved in MSs.

中文翻译：

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使用染色体微缺失综合征作为模型的基于网络的分析

微缺失综合征 (MS) 是一组异质性遗传疾病，几乎可以影响人类的所有功能和器官。尽管将多组学和数据库信息集成到生物网络中的系统生物学方法扩展了我们对遗传疾病的认识，但基于细胞基因组网络的分析很少应用于研究 MS。在这项研究中，我们使用基于网络的方法分析了 28 个 MS 的数据，以研究关键染色体区域与各自基础生物网络系统之间的关联。我们确定了 MSs 相关蛋白质，这些蛋白质在人类相互作用组内的链接模块网络中组织起来。某些 MS 形成了高度相互关联的独立疾病模块。此外，我们观察到疾病模块涉及来自 MS 相互作用组中其他疾病组的蛋白质。此外，对位于已知染色体关键区域的 564 个基因的综合数据的分析，包括那些有助于拓扑参数、共享途径和基因 - 疾病关联的基因，表明复杂的生物系统和细胞网络可能是 MS 中许多基因型与表型关联的基础。总之，我们使用基于网络的分析来提供可能有助于更好地理解 MS 中涉及的分子途径的资源。表明复杂的生物系统和细胞网络可能是 MS 中许多基因型与表型关联的基础。总之，我们使用基于网络的分析来提供可能有助于更好地理解 MS 中涉及的分子途径的资源。表明复杂的生物系统和细胞网络可能是 MS 中许多基因型与表型关联的基础。总之，我们使用基于网络的分析来提供可能有助于更好地理解 MS 中涉及的分子途径的资源。