摘要
目的研究系统性红斑狼疮（SLE）患者3’不翻译区（3＇UTR）长度多态性，分析其在发病机制中的作用。方法利用mRNA3’端单端特异测序获得选择性多聚腺苷酸化位点使用频率，判断3＇UTR长度变化情况，并检测SLE患者外周血单核细胞中基因表达差异，结合生物信息学分析3＇UTR长度多态性与SLE临床病症间的联系。结果与正常健康对照组相比，SLE组样品有904个基因倾向使用显著缩短或延长的3＇UTR，基因明显富集于SLE发病相关的26条功能通路；1597个基因呈现明显表达差异，富集在22条SLE发病相关的功能通路上。结论SLE是一种复杂的多基因疾病，3＇UTR长度多态性对SLE相关基因功能有重要影响，3＇UTR可能通过表观遗传学调控方式参与SLE发病。
Objective Study the length polymorphism of 3＇ untranslated region （3＇UTR） in patients with systemic lupus erythematosus （SLE） , and analyse its role in the pathogenesis of the disease. Methods Detect the alternative polyadenylation sites by mRNA 3＂end specific sequencing, and then determine the changes in 3＇UTR length, meanwhile, detect the differentially expressed genes in peripheral blood mononuclear cells of SLE patients. Explore the relationship between length polymorphism of 3＇UTR and the clinical symptoms of SLE by bioinformatics analysis. Results Compared with healthy controls ,904 genes in SLE group tended to use sig- nificant length-changed 3＇UTR. These genes significantly enriched in 26 KEGG pathways associated with the pathogenesis of SLE,and 1 597 genes had significant different expression levels, which enriched in 22 KEGG pathways related to SLE. Conclusions SLE is a complex polygenic disease. The genes with 3＇UTR length poly- morphism had an important influence on the development of SLE ,3＇UTR may participate in the epigenetic regu- lation of the pathogenesis of SLE.
出处
《国际免疫学杂志》
CAS
2015年第4期311-315,共5页
International Journal of Immunology
基金
广西自然科学基金重点项目（2012GXNSFDA053017）
广西自然科学基金（2014GXNSFAA118179）
桂林市科技计划（科技攻关20130120-20）
