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乳糜泻及其合并症的生物信息学方法

Bioinformatics methodologies for coeliac disease and its comorbidities.

作者信息

Del Prete Eugenio, Facchiano Angelo, Liò Pietro

机构信息

Department of Sciences, University of Basilicata, Via dell'Ateneo Lucano, Potenza, Italy.

National Research Council, Institute of Food Science (CNR-ISA),Via Roma 64, Avellino, Italy.

出版信息

Brief Bioinform. 2020 Jan 17;21(1):355-367. doi: 10.1093/bib/bby109.

DOI:10.1093/bib/bby109
PMID:30452543
Abstract

Coeliac disease (CD) is a complex, multifactorial pathology caused by different factors, such as nutrition, immunological response and genetic factors. Many autoimmune diseases are comorbidities for CD, and a comprehensive and integrated analysis with bioinformatics approaches can help in evaluating the interconnections among all the selected pathologies. We first performed a detailed survey of gene expression data available in public repositories on CD and less commonly considered comorbidities. Then we developed an innovative pipeline that integrates gene expression, cell-type data and online resources (e.g. a list of comorbidities from the literature), using bioinformatics methods such as gene set enrichment analysis and semantic similarity. Our pipeline is written in R language, available at the following link: http://bioinformatica.isa.cnr.it/COELIAC_DISEASE/SCRIPTS/. We found a list of common differential expressed genes, gene ontology terms and pathways among CD and comorbidities and the closeness among the selected pathologies by means of disease ontology terms. Physicians and other researchers, such as molecular biologists, systems biologists and pharmacologists can use it to analyze pathology in detail, from differential expressed genes to ontologies, performing a comparison with the pathology comorbidities or with other diseases.

摘要

乳糜泻(CD)是一种由多种因素引起的复杂的多因素病理学疾病,这些因素包括营养、免疫反应和遗传因素。许多自身免疫性疾病是CD的合并症,采用生物信息学方法进行全面综合分析有助于评估所有选定病理学之间的相互联系。我们首先对公共数据库中关于CD以及较少被考虑的合并症的基因表达数据进行了详细调查。然后,我们开发了一种创新流程,利用基因集富集分析和语义相似性等生物信息学方法,整合基因表达、细胞类型数据和在线资源(例如来自文献的合并症列表)。我们的流程用R语言编写,可通过以下链接获取:http://bioinformatica.isa.cnr.it/COELIAC_DISEASE/SCRIPTS/。我们通过疾病本体术语,找到了CD与合并症之间常见的差异表达基因、基因本体术语和通路,以及所选病理学之间的紧密程度。医生和其他研究人员,如分子生物学家、系统生物学家和药理学家,可以使用它从差异表达基因到本体详细分析病理学,与合并症病理学或其他疾病进行比较。

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