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遗传学与表观遗传学相遇:调控心血管疾病中非编码RNA的基因变异

Genetics meets epigenetics: Genetic variants that modulate noncoding RNA in cardiovascular diseases.

作者信息

Calore Martina, De Windt Leon J, Rampazzo Alessandra

机构信息

Department of Cardiology, CARIM School for Cardiovascular Diseases, Maastricht University, 6229 ER Maastricht, The Netherlands.

Department of Biology, University of Padua, Via G. Colombo 3, 35131, Padua, Italy.

出版信息

J Mol Cell Cardiol. 2015 Dec;89(Pt A):27-34. doi: 10.1016/j.yjmcc.2015.10.028. Epub 2015 Nov 9.

Abstract

After the recent description of the human genome by the ENCODE and the FANTOM consortia, major attention has been addressed to the so-called "genomic noise", which mainly consists of noncoding RNAs (ncRNAs). Among them, microRNAs and long non-coding RNAs have been demonstrated to modulate gene expression and to be involved in several human diseases. Since ncRNAs and their targets are encoded in the genome, genetic principles apply. Common variants are supposed to influence the expression level and the functionality of ncRNAs, with subsequent differential regulation of their target genes. Moreover, several reports showed that polymorphisms in ncRNA or their target genes play a role in the development of cardiovascular adverse phenotype. Here, we provide an overview of the effects of these variations in cardiovascular diseases.

摘要

在ENCODE和FANTOM联盟近期对人类基因组进行描述之后,人们主要关注了所谓的“基因组噪音”,其主要由非编码RNA(ncRNA)组成。其中,微小RNA和长链非编码RNA已被证明可调节基因表达并参与多种人类疾病。由于ncRNA及其靶标在基因组中编码,因此遗传原理适用。常见变异被认为会影响ncRNA的表达水平和功能,进而对其靶基因产生不同的调控。此外,多项报告表明,ncRNA或其靶基因中的多态性在心血管不良表型的发展中起作用。在此,我们概述了这些变异在心血管疾病中的影响。

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