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Search for sarcoidosis candidate genes by integration of data from genomic, transcriptomic and proteomic studies

机译:通过整合来自基因组,转录组和蛋白质组学研究的数据来寻找结节病候选基因

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Background The search for gene candidates in multifactorial diseases such as sarcoidosis can be based on the integration of linkage association data, gene expression data, and protein profile data from genomic, transcriptomic and proteomic studies, respectively. Material and Method In this study we performed a literature-based search for studies reporting such data, followed by integration of collected information. Different databases were examined--Medline, HugGE Navigator, ArrayExpress and Gene Expression Omnibus (GEO). Candidate genes were defined as genes which were reported in at least 2 different types of omics studies. Genes previously investigated in sarcoidosis were excluded from further analyses. Results We identified 177 genes associated with sarcoidosis as potential new candidate genes. Subsequently, 9 gene candidates identified to overlap in 2 different types of studies (genomic, transcriptomic and/or proteomic) were consistently reported in at least 3 studies: SERPINB1, FABP4, S100A8, HBEGF, IL7R, LRIG1, PTPN23, DPM2 and NUP214. These genes are involved in regulation of immune response, cellular proliferation, apoptosis, inhibition of protease activity, lipid metabolism. Exact biological functions of HBEGF, LRIG1, PTPN23, DPM2 and NUP214 remain to be completely elucidated. Conclusions We propose 9 candidate genes: SERPINB1, FABP4, S100A8, HBEGF, IL7R, LRIG1, PTPN23, DPM2 and NUP214, as genes with high potential for association with sarcoidosis.
机译:背景技术在结节病等多因素疾病中寻找基因候选者可以基于分别来自基因组,转录组和蛋白质组学研究的连锁关联数据,基因表达数据和蛋白质谱数据的整合。材料和方法在本研究中,我们对报告此类数据的研究进行了基于文献的搜索,然后整合了所收集的信息。检查了不同的数据库-Medline,HugGE Navigator,ArrayExpress和Gene Expression Omnibus(GEO)。候选基因定义为在至少两种不同类型的组学研究中报告的基因。先前在结节病中研究的基因被排除在进一步分析之外。结果我们确定了与结节病相关的177个基因作为潜在的新候选基因。随后,在至少3项研究中一致报告了在2种不同类型的研究(基因组,转录组和/或蛋白质组学)中重叠的9个基因候选者:SERPINB1,FABP4,S100A8,HBEGF,IL7R,LRIG1,PTPN23,DPM2和NUP214。这些基因参与免疫应答的调节,细胞增殖,凋亡,蛋白酶活性的抑制,脂质代谢。 HBEGF,LRIG1,PTPN23,DPM2和NUP214的确切生物学功能仍有待完全阐明。结论我们提出了9个候选基因:SERPINB1,FABP4,S100A8,HBEGF,IL7R,LRIG1,PTPN23,DPM2和NUP214,它们是与结节病相关的潜在基因。

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