miRNA相关单核苷酸多态性

miRNA-related single nucleotide polymorphisms

miRNA相关单核苷酸多态性(miRNA-related single nucleotide polymorphisms或mirSNP)是可以导致miRNA基因调控功能缺失或紊乱的一类功能型SNP的总称。不论是miRNA靶基因结合位点,还是miRNA基因或miRNA加工基因上的mirSNP,都有可能影响miRNA对靶基因的调控。miRNA基因及miRNA加工基因上的mirSNP主要通过阻碍miRNA的生物合成而发挥功能,而靶基因结合位点上的mirSNP主要通过导致自由能的改变或功能构象的消失,影响miRNA与靶序列结合而丧失其原有的调控功能。mirSNP大多位于人类基因组基因间区和内含子区,与包括肿瘤在内的众多复杂性疾病密切关联。mirSNP不论对于复杂性疾病发病机制研究还是诊疗预后分子标志的确定都具有极其重要的研究价值。

miRNA-related single nucleotide polymorphisms （miR-SNP or mirSNP ） are of the same category functional SNP, which could leading to deletion or disorders in gene regulation by miRNA. Whether in miRNA binding site, miRNA genes or miRNA processing genes, all of the mirSNP maybe affect the regulation in target genes. MirSNPs in coding and processing genes of miRNAs exert the effect mainly by preventing the biosynthesis of miRNA. While mirSNPs in the binding regions of miRNA target genes are mainly through altering free energy or leading to function conformation disappeared, which will impact the miRNA combined with target sequence to lose original regulation. Moreover, most of mirSNP are located in intergenic and intronic regions of the human genome and have important association with complex diseases including tumors. Whether in the pathogenesis research of complex diseases or finding biomarkers for diagnosis and prognosis, mirSNPs have extremely important research value.