Lin Rui, Charlesworth Jac, van der Mei Ingrid, Taylor Bruce V
Menzies Research Institute Tasmania, University of Tasmania, Hobart, Tasmania, Australia.
Pract Neurol. 2012 Oct;12(5):279-88. doi: 10.1136/practneurol-2012-000276.
Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system. Improved prevention and treatment will depend on a greater understanding of the causes and mechanisms involved in its onset and progression. MS is clearly driven by both environmental and genetic factors. Established contributory environmental factors include lower ultraviolet radiation exposure and lower vitamin D levels, Epstein-Barr virus and smoking. Our current understanding of MS genetics is undergoing a major upgrade as new genetic technologies are applied to large MS studies. In this article, we review the current literature describing a genetic contribution to MS susceptibility and review the methods to detect genetic variants that may underlie the genetic contribution to MS. We also consider how reporting of genetic discoveries in MS in the lay press has caused some confusion among patients and their families, who, not surprisingly, think that these discoveries can be translated into an available genetic test to diagnose MS or recognise family members at risk of developing MS. We review the current limited clinical use of genetics in the diagnosis and management of MS.
多发性硬化症（MS）是一种中枢神经系统的炎性脱髓鞘疾病。预防和治疗的改善将取决于对其发病和进展所涉及的原因及机制有更深入的了解。MS显然是由环境因素和遗传因素共同驱动的。已确定的环境促成因素包括紫外线辐射暴露减少和维生素D水平降低、爱泼斯坦-巴尔病毒以及吸烟。随着新的基因技术应用于大规模MS研究，我们目前对MS遗传学的理解正在经历重大升级。在本文中，我们回顾了描述遗传因素对MS易感性影响的当前文献，并回顾了检测可能构成MS遗传因素基础的基因变异的方法。我们还考虑了大众媒体对MS遗传发现的报道如何在患者及其家属中造成了一些困惑，不出所料，他们认为这些发现可以转化为一种可用的基因检测来诊断MS或识别有患MS风险的家庭成员。我们回顾了目前遗传学在MS诊断和管理中的有限临床应用。
