TNFRSF1A coding variants in multiple sclerosis

被引：14

作者：

Goris, An ^{[1
]}

Fockaert, Niels ^{[2
]}

Cosemans, Leentje ^{[1
]}

Clysters, Katleen ^{[2
]}

Nagels, Guy ^{[3
]}

Boonen, Steven ^{[4
,5
]}

Thijs, Vincent ^{[6
,7
]}

Robberecht, Wim ^{[6
,7
]}

Dubois, Benedicte ^{[1
,2
]}

机构：

[1] Katholieke Univ Leuven, Sect Expt Neurol, Lab Neuroimmunol, B-3000 Louvain, Belgium

[2] Katholieke Univ Leuven Hosp, Dept Neurol, B-3000 Louvain, Belgium

[3] Natl MS Ctr Melsbroek, B-1820 Melsbroek, Belgium

[4] Katholieke Univ Leuven, Ctr Metab Bone Dis, B-3000 Louvain, Belgium

[5] Katholieke Univ Leuven Hosp, Div Geriatr Med, B-3000 Louvain, Belgium

[6] Katholieke Univ Leuven, Vesalius Res Ctr, B-3000 Louvain, Belgium

[7] VIB, B-3000 Louvain, Belgium

来源：

JOURNAL OF NEUROIMMUNOLOGY | 2011年 / 235卷 / 1-2期

关键词：

Multiple sclerosis; Association; Susceptibility; Tumour Necrosis Factor; Autoinflammation; PERIODIC-SYNDROME; R92Q MUTATION; DIAGNOSTIC-CRITERIA; TRAPS; ASSOCIATION; GUIDELINES; GENE;

D O I：

10.1016/j.jneuroim.2011.04.005

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Patients with the autoinflammatory disease Tumour Necrosis Factor receptor-associated periodic syndrome (TRAPS) who suffer from demyelinating disease have been described, and one of the milder TRAPS mutations (R92Q in the TNFRSF1A gene) has been suggested as a risk factor for multiple sclerosis (MS). In a study population of 967 MS patients and 1022 controls, we replicate association [P=5 x 10(-4), 3% in patients versus 1% in controls, OR=2.26 (95% CI 1.41-3.61)], which appears independent of an established common risk variant in the same gene. No other non-synonymous variants in the same allele frequency range influencing risk of MS were observed. (C) 2011 Elsevier B.V. All rights reserved.

引用

页码：110 / 112

页数：3

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