Zhao Jianping, Zhang Zhengguo, Ren Shumin, Zong Yanan, Kong Xiangdong
Clinical Laboratory, Women and Infants Hospital of Zhengzhou, Zhengzhou, Henan 450012, P.R. China.
Clinical Laboratory, Henan Provincial Hospital of Traditional Chinese Medicine, Zhengzhou, Henan 450002, P.R. China.
Exp Ther Med. 2016 Sep;12(3):1503-1508. doi: 10.3892/etm.2016.3462. Epub 2016 Jun 17.
Down's syndrome (DS) is a type of chromosome disease. The present study aimed to explore the underlying molecular mechanisms of DS. GSE5390 microarray data downloaded from the gene expression omnibus database was used to identify differentially expressed genes (DEGs) in DS. Pathway enrichment analysis of the DEGs was performed, followed by co-expression network construction. Significant differential modules were mined by mutual information, followed by functional analysis. The accuracy of sample classification for the significant differential modules of DEGs was evaluated by leave-one-out cross-validation. A total of 997 DEGs, including 638 upregulated and 359 downregulated genes, were identified. Upregulated DEGs were enriched in 15 pathways, such as cell adhesion molecules, whereas downregulated DEGs were enriched in maturity onset diabetes of the young. Three significant differential modules with the highest discriminative scores (mutual information>0.35) were selected from a co-expression network. The classification accuracy of GSE16677 expression profile samples was 54.55% and 72.73% when characterized by 12 DEGs and 3 significant differential modules, respectively. Genes in significant differential modules were significantly enriched in 5 functions, including the endoplasmic reticulum (P=0.018) and regulation of apoptosis (P=0.061). The identified DEGs, in particular the 12 DEGs in the significant differential modules, such as B-cell lymphoma 2-associated transcription factor 1, heat shock protein 90 kDa beta member 1, UBX domain-containing protein 2 and transmembrane protein 50B, may serve important roles in the pathogenesis of DS.
唐氏综合征(DS)是一种染色体疾病。本研究旨在探究DS潜在的分子机制。从基因表达综合数据库下载的GSE5390芯片数据用于鉴定DS中差异表达基因(DEGs)。对DEGs进行通路富集分析,随后构建共表达网络。通过互信息挖掘显著差异模块,接着进行功能分析。通过留一法交叉验证评估DEGs显著差异模块的样本分类准确性。共鉴定出997个DEGs,包括638个上调基因和359个下调基因。上调的DEGs富集于15条通路,如细胞黏附分子,而下调的DEGs富集于青年发病的成年型糖尿病。从共表达网络中选择了三个具有最高判别分数(互信息>0.35)的显著差异模块。当以12个DEGs和3个显著差异模块为特征时,GSE16677表达谱样本的分类准确率分别为54.55%和72.73%。显著差异模块中的基因在5种功能中显著富集,包括内质网(P = 0.018)和细胞凋亡调控(P = 0.061)。鉴定出的DEGs,特别是显著差异模块中的12个DEGs,如B细胞淋巴瘤2相关转录因子1、热休克蛋白90 kDaβ成员1、含UBX结构域蛋白2和跨膜蛋白50B,可能在DS的发病机制中起重要作用。