人microRNA相关的遗传变异与肿瘤  

Association of human microRNA related genetic variations with cancer

作　　者：李佩尧[1,2] 贺福初[1,2] 周钢桥[1,2] 

机构地区：[1]军事医学科学院放射与辐射医学研究所蛋白质组学国家重点实验室基因组学与蛋白质组学研究室,北京100850 [2]北京蛋白质组研究中心,功能基因组学研究室,北京102206

出　　处：《遗传》2011年第8期870-878,共9页Hereditas（Beijing)

基　　金：国家科技重大专项(编号:2008ZX10002-016);国家自然科学基金项目(编号:30900819;30901707)资助

摘　　要：微RNA(microRNA,miRNA)是新发现的一类进化上高度保守的重要的转录后调控因子,通过调节基因的表达而参与调控细胞凋亡、增殖及分化等生理过程,同时与肿瘤等疾病的发生发展密切相关。近年来研究发现,miRNA、miRNA生物合成通路基因及miRNA的靶基因结合位点的遗传变异(例如单核苷酸多态性和拷贝数变异等)可影响miRNA调控功能的发挥,并产生显著的遗传学效应。文章主要综述了miRNA相关的遗传变异与肿瘤易感性和临床转归等的研究进展。microRNAs（miRNAs） are a highly conserved class of small noncoding RNAs that regulate gene expression by post-transcriptional degradation or translational repression.miRNAs are involved in the regulation of cell apoptosis,prolif-eration,differentiation and other physiological processes,and are closely related with the development of cancer.More recently,it has been proposed that the presence of genetic variations（e.g.,single nucleotide polymorphism and copy num-ber variation） in microRNA genes,their biogenesis pathway and target binding sites affect the miRNA processing machin-ery and targeting,and have a significant genetic effect.In this review,we focus on the miRNA-related genetic variations and cancer susceptibility and progression.

关 键 词：MICRORNA 单核苷酸多态性 拷贝数变异 肿瘤 

分 类 号：R730.2[医药卫生—肿瘤]