Moreno-Ramírez Carlos E, Gutiérrez-Garzón Eulogia, Barreto George E, Forero Diego A
Laboratory of Neuropsychiatric Genetics, Biomedical Sciences Research Group, School of Medicine, Universidad Antonio Nariño, Bogotá, Colombia.
Departamento de Nutrición y Bioquímica, Facultad de Ciencias, Pontificia Universidad Javeriana, Bogotá, Colombia.
J Stroke Cerebrovasc Dis. 2018 Nov;27(11):3336-3341. doi: 10.1016/j.jstrokecerebrovasdis.2018.07.035. Epub 2018 Aug 28.
Genome-wide expression studies (GWES), using microarray platforms, have allowed a deeper understanding of the molecular factors involved in the pathophysiology of ischemic stroke (IS), one of the main global causes of mortality and disability.
In the current work, we carried out a meta-analysis of available GWES for IS. Bioinformatics and computational biology analyses were applied to identify enriched functional categories and convergence with other genomic datasets for IS.
Three primary datasets were included and in the meta-analyses for GWES and IS, 41 differentially expressed (DE) genes were identified using a random effects model. Thirteen of these genes were downregulated and 28 were upregulated. An analysis of functional categories found a significant enrichment for the Gene Ontology Term "Inflammatory Response" and for binding sites for the PAX2 transcription factor.
The list of DE genes identified in this meta-analysis of GWES for IS is useful for future genetic and molecular studies, which would allow the identification of novel mechanisms involved in the pathophysiology of IS. Several of the DE genes found in this meta-analysis have known functional roles related to mechanisms involved in the pathophysiology of IS. It is recognized the role of the inflammatory response in the pathophysiology of IS.
利用微阵列平台进行的全基因组表达研究（GWES），使人们能够更深入地了解缺血性中风（IS）病理生理学中涉及的分子因素，缺血性中风是全球主要的死亡和残疾原因之一。
在当前工作中，我们对现有的缺血性中风全基因组表达研究进行了荟萃分析。应用生物信息学和计算生物学分析来识别富集的功能类别以及与其他缺血性中风基因组数据集的趋同情况。
纳入了三个主要数据集，在缺血性中风全基因组表达研究的荟萃分析中，使用随机效应模型鉴定出41个差异表达（DE）基因。其中13个基因下调，28个基因上调。功能类别分析发现基因本体术语“炎症反应”以及PAX2转录因子结合位点有显著富集。
在本次缺血性中风全基因组表达研究荟萃分析中鉴定出的差异表达基因列表，对未来的遗传和分子研究有用，这将有助于识别缺血性中风病理生理学中涉及的新机制。在本次荟萃分析中发现的几个差异表达基因具有与缺血性中风病理生理学机制相关的已知功能作用。炎症反应在缺血性中风病理生理学中的作用已得到认可。
