MGAT5 alters the severity of multiple sclerosis
MGAT5 alters the severity of multiple sclerosis
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DOI：
10.1016/j.jneuroim.2010.01.003
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发表时间：
2010-03-30
影响因子：
3.3
通讯作者：
Abderrahim, H.
中科院分区：
文献类型：
--
作者：
Brynedal, B.;Wojcik, J.;Abderrahim, H.
多发性硬化（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。到目前为止，还没有基因变异与疾病严重程度明确相关。我们已经使用AffysseGenechip（R）500 K技术对1040名MS患者的严重程度进行了全基因组筛查。MGAT 5（编码糖基化酶的基因）中的两个标志物被发现与筛查结果以及独立人群中的结果显著相关（合并p值：2.8 x 10（-6）和1.5 x 10（-7））。(C)2010 Elsevier B. V.保留所有权利。
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 (R) 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)). (C) 2010 Elsevier B.V. All rights reserved.