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多发性硬化症的遗传学

Genetics of multiple sclerosis.

作者信息

Dyment David A, Ebers George C, Sadovnick A Dessa

机构信息

The Wellcome Trust Center for Human Genetics, University of Oxford, Oxford, UK.

出版信息

Lancet Neurol. 2004 Feb;3(2):104-10. doi: 10.1016/s1474-4422(03)00663-x.

Abstract

Multiple sclerosis (MS) is probably aetiologically heterogeneous. Systematic genetic epidemiological and molecular genetic studies have provided important insights. Both genetic and non-genetic (environment, stochastic) factors may be involved in susceptibility as well as outcome, but we have yet to understand their relative roles. Any environmental factor is likely to be ubiquitous and act on a population-basis rather than within the family microenvironment. Taken together, the results of genome screening studies provide strong evidence for exclusion of a major locus in MS. There are, however, many genes that seem to be associated with MS. These include, but are in no way limited to, HLA classes I and II, T-cell receptor beta, CTLA4, ICAM1, and SH2D2A. The future of MS genetics, as for most common complex disorders, will be dependent on the resources available, ranging from biological samples and comprehensive databases of clinical and epidemiological information to the development of new technologies and statistical methods.

摘要

多发性硬化症(MS)在病因上可能具有异质性。系统的遗传流行病学和分子遗传学研究提供了重要的见解。遗传因素和非遗传因素(环境、随机因素)可能都与易感性以及疾病转归有关,但我们尚未了解它们各自的相对作用。任何环境因素可能都是普遍存在的,并且是基于人群起作用,而非在家庭微环境中起作用。综合来看,基因组筛查研究结果为排除MS中的一个主要基因座提供了有力证据。然而,有许多基因似乎与MS相关。这些基因包括但不限于HLA I类和II类、T细胞受体β、CTLA4、ICAM1和SH2D2A。与大多数常见复杂疾病一样,MS遗传学的未来将取决于可用资源,从生物样本以及临床和流行病学信息的综合数据库到新技术和统计方法的开发。

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