The MS research group, Center for Molecular Medicine CMM L8:00, Department of Clinical Neuroscience, Karolinska Institutet, 171 76 Stockholm, Sweden.
J Neuroimmunol. 2010 Mar 30;220(1-2):120-4. doi: 10.1016/j.jneuroim.2010.01.003. Epub 2010 Feb 1.
Multiple Sclerosis (MS) is a genetically complex immune mediated, demyelinating disease of the central nervous system. To date no genetic variants have been unambiguously linked to disease severity. We have conducted a genome wide screen, using Affymetrix Genechip 500K technology, for severity in 1040 MS patients. Two markers within MGAT5, a gene coding for a glycosylation enzyme, were found to be significantly associated with outcome in the screening as well as in an independent population (combined p-values: 2.8 x 10(-6) and 1.5 x 10(-7)).
多发性硬化症（MS）是一种遗传复杂的免疫介导的中枢神经系统脱髓鞘疾病。迄今为止，尚未明确确定与疾病严重程度相关的遗传变异。我们使用 Affymetrix Genechip 500K 技术对 1040 名 MS 患者的严重程度进行了全基因组筛查。在筛选以及独立人群中，MGAT5 内的两个标记物（编码糖基化酶的基因）与结果显著相关（合并 p 值：2.8×10(-6)和 1.5×10(-7)）。
