儿科风湿性疾病的遗传学概述。
An overview of genetics of paediatric rheumatic diseases.
机构信息
Windeyer Building, University College London, 46, Cleveland Street, London W1T 4JF, UK.
出版信息
Best Pract Res Clin Rheumatol. 2009 Oct;23(5):589-97. doi: 10.1016/j.berh.2009.08.001.
Abstract
The evidence so far suggests that the paediatric inflammatory diseases encountered in rheumatology practice may be largely genetic in origin, where common single nucleotide polymorphisms (SNPs) in multiple genes contribute to risk, with real but variable environmental components. As far as genetic susceptibility to common paediatric rheumatic diseases is concerned, only juvenile idiopathic arthritis (JIA) has been investigated in any substantial way so far. This article discusses susceptibility for different types of JIA, the different methods used and their advantages and disadvantages. The genetic code is also modifiable by epigenetic mechanisms and examples of these in immunity and rheumatoid arthritis are given to indicate another area of research in the elucidation of the genetics of paediatric rheumatic diseases.
摘要
目前的证据表明，风湿科中遇到的儿科炎症性疾病可能主要源于遗传，多个基因中的常见单核苷酸多态性（SNP）导致了疾病风险，而真实但可变的环境因素也有一定影响。就常见儿科风湿性疾病的遗传易感性而言，迄今为止，只有幼年特发性关节炎（JIA）得到了较为深入的研究。本文讨论了不同类型 JIA 的易感性、所使用的不同方法及其优缺点。遗传密码还可以通过表观遗传机制进行修饰，本文给出了免疫和类风湿关节炎中这些机制的例子，以表明在阐明儿科风湿性疾病遗传学方面的另一个研究领域。
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