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2016年骨关节炎年度回顾:遗传学、基因组学与表观遗传学

Osteoarthritis year in review 2016: genetics, genomics and epigenetics.

作者信息

van Meurs J B J

机构信息

Department of Internal Medicine, Erasmus MC, 's-Gravendijkwal 230, 3015 CE Rotterdam, The Netherlands.

出版信息

Osteoarthritis Cartilage. 2017 Feb;25(2):181-189. doi: 10.1016/j.joca.2016.11.011. Epub 2017 Jan 16.

DOI:10.1016/j.joca.2016.11.011
PMID:28100422
Abstract

The purpose of this narrative review is to provide an overview of last year's publications in the field of genetics, genomics and epigenetics in the osteoarthritis (OA) field. Major themes arising from a Pubmed search on (epi)genetics in OA were identified. In addition, general developments in the fast evolving field of (epi)genetics are reviewed and relevance for the OA field is summarized. In the last 5 years, a number of genome-wide association studies have identified a modest number of genetic loci associated to OA. Continued functional research into these DNA variants is showing putative biological mechanisms underlying these associations. Over the last year, no additional large genome-wide association studies were published, but there clearly remains much to be discovered in the OA genetic field. A lot of research has been done into the epigenetics of OA over the last year. Several genome-wide screens examining the methylome of osteoarthritic cartilage were done. Pathway analysis confirmed deregulation of developmental and extracellular pathways in OA cartilage. Over the last year many microRNAs (miRNAs) have been identified that potentially play important roles in cartilage homeostasis and/or OA process. Continued research will learn whether these identified miRNAs are truly causal and can be used in clinical applications. Many of the epigenetic findings need further confirmation, but they highlight potential novel pathways involved in cartilage biology and OA.

摘要

本叙述性综述的目的是概述骨关节炎(OA)领域去年在遗传学、基因组学和表观遗传学方面的出版物。通过在PubMed上搜索OA中的(表观)遗传学,确定了主要主题。此外,还综述了快速发展的(表观)遗传学领域的总体进展,并总结了其与OA领域的相关性。在过去5年中,一些全基因组关联研究已经确定了一些与OA相关的遗传位点。对这些DNA变异的持续功能研究正在揭示这些关联背后的假定生物学机制。在过去一年里,没有发表新的大规模全基因组关联研究,但OA遗传领域显然仍有许多有待发现的地方。在过去一年里,对OA的表观遗传学进行了大量研究。进行了几项全基因组筛查,检测骨关节炎软骨的甲基化组。通路分析证实了OA软骨中发育和细胞外通路的失调。在过去一年里,已经鉴定出许多可能在软骨稳态和/或OA进程中发挥重要作用的微小RNA(miRNA)。持续的研究将了解这些鉴定出的miRNA是否真的具有因果关系,以及是否可用于临床应用。许多表观遗传学研究结果需要进一步证实,但它们突出了软骨生物学和OA中潜在的新通路。

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