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多发性硬化症遗传分析的最新进展:遗传关联及治疗意义

Recent advances in genetic analysis of multiple sclerosis: genetic associations and therapeutic implications.

作者信息

Niino Masaaki, Fukazawa Toshiyuki, Kikuchi Seiji, Sasaki Hidenao

机构信息

Department of Neurology, Hokkaido University Hospital, Kita-14, Nishi-5, Kita-ku, Sapporo 060-8648, Japan.

出版信息

Expert Rev Neurother. 2007 Sep;7(9):1175-88. doi: 10.1586/14737175.7.9.1175.

Abstract

Epidemiological studies have confirmed that genetic factors are a key component in the pathogenesis of multiple sclerosis (MS) and that those determining MS susceptibility have been extensively studied. Many papers have been published regarding the heritable differences useful in genetic studies; these include variations in DNA, such as single-nucleotide polymorphisms, microsatellites and insertion/deletion polymorphisms. However, to date, among other regions, HLA is the only region confirmed to possess genes that determine MS susceptibility. In this article, we review the progress during the last 5 years in the studies on the susceptibility genes and the pharmacogenetics of MS. Newer techniques and methods of analysis will hopefully result in better screening of individuals who are at highest risk and novel treatments.

摘要

流行病学研究已证实,遗传因素是多发性硬化症(MS)发病机制的关键组成部分,并且对那些决定MS易感性的因素已进行了广泛研究。关于遗传研究中有用的遗传差异,已发表了许多论文;这些差异包括DNA变异,如单核苷酸多态性、微卫星和插入/缺失多态性。然而,迄今为止,在其他区域中,HLA是唯一被证实拥有决定MS易感性基因的区域。在本文中,我们回顾了过去5年中MS易感性基因和药物遗传学研究的进展。更新的技术和分析方法有望更好地筛查出风险最高的个体,并带来新的治疗方法。

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