MGAT5 alters the severity of multiple sclerosis

被引：59

作者：

Brynedal, B. ^{[1
]}

Wojcik, J. ^{[2
]}

Esposito, F. ^{[3
,6
]}

Debailleul, V. ^{[2
]}

Yaouanq, J. ^{[4
,5
]}

Martinelli-Boneschi, F. ^{[3
,6
]}

Edan, G. ^{[4
]}

Comi, G. ^{[3
,6
]}

Hillert, J. ^{[1
]}

Abderrahim, H. ^{[2
]}

机构：

[1] Karolinska Inst, Dept Clin Neurosci, Ctr Mol Med, MS Res Grp, S-17176 Stockholm, Sweden

[2] Geneva Res Ctr, CH-1202 Geneva, Switzerland

[3] Hosp San Raffaele, Neurol Unit, I-20132 Milan, Italy

[4] Pontchaillou Univ Hosp, Dept Neurol, F-35033 Rennes, France

[5] Pontchaillou Univ Hosp, Dept Epidemiol, Rennes, France

[6] Hosp San Raffaele, Inst Expt Neurol, I-20132 Milan, Italy

来源：

JOURNAL OF NEUROIMMUNOLOGY | 2010年 / 220卷 / 1-2期

关键词：

Multiple sclerosis; Severity; MSSS; Genetic association; MGAT5; CLINICAL-COURSE; N-ACETYLGLUCOSAMINYLTRANSFERASE; REMNANT EPITOPES; AGE; SUSCEPTIBILITY; AUTOIMMUNITY; EXPRESSION; DIAGNOSIS; GENES; RISK;

D O I：

10.1016/j.jneuroim.2010.01.003

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

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.

引用

页码：120 / 124

页数：5

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