Role of variations within microRNA-binding sites in cancer
Role of variations within microRNA-binding sites in cancer
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DOI：
10.1093/mutage/ger055
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发表时间：
2012-03-01
期刊：
影响因子：
2.7
通讯作者：
Landi, Stefano
中科院分区：
文献类型：
--
作者：
Landi, Debora;Gemignani, Federica;Landi, Stefano
来自不同物种的超过2000个microRNA （miRNA）序列已提交到miRNA中央在线库miRBase，共制作5071个miRNA位点，表达5922个不同的成熟miRNA序列。在这篇综述中，我们讨论了影响miRNA的人类遗传变异、它们的靶基因和参与miRNA加工的基因对个体癌症风险的重要性，特别强调了结直肠癌。事实上，在过去的几年里，越来越多的研究表明，个体的癌症易感性是由影响miRNA生物发生的遗传多态性调节的，miRNA与靶点之间的相互作用也在急剧增加。我们还报告了miRNA基因和miRNA靶点内的单核苷酸多态性（snp）变异等位基因（以前与癌症风险相关）在功能研究中测试时表现不同的第一个证据。属于miRNA世界的snp无疑为疾病遗传易感性领域的新见解做出了贡献。
Over 2000 microRNA (miRNA) sequences from different species have been submitted to the miRBase, the central online repository for miRNAs, making a total of 5071 miRNA loci, expressing 5922 distinct mature miRNA sequences. In this review, we have addressed the importance of the genetic variations in humans affecting miRNAs, their target genes and the genes involved in miRNA processing for individual risk of cancer, with particular emphasis on colorectal cancer. In fact, the number of studies suggesting that individual predisposition to cancer is modulated by genetic polymorphisms affecting the biogenesis of miRNA and the interaction between miRNAs and targets has risen steeply in the last few years. We also report the first evidence that variant alleles of single-nucleotide polymorphisms (SNPs) within miRNA genes and miRNA targets, previously associated with the risk of cancer, behave differently when tested in functional studies. The SNPs belonging to the miRNA world are certainly contributing to new insights in the field of the genetic predisposition to disease.