期刊
JOURNAL OF NEUROIMMUNOLOGY
卷 229, 期 1-2, 页码 107-111出版社
ELSEVIER
DOI: 10.1016/j.jneuroim.2010.07.015
关键词
Myasthenia; SNP; LGALS1
资金
- Hungarian Scientific Research Fund [OTKA 73247, OTKA 73496, PD-76348]
- Marie Curie RTN program [19561]
- NKTH (Genagrid) [TECH_08-A1/2-2008-0120]
- Hungarian Academy of Sciences
Galectin-1 (LGALS1) and interleukin receptor 2 beta (IL2R beta) are regulators of T-cell activation. Here we evaluated the association of regulatory region polymorphisms of the LGALS1 (rs4820293, rs4820294) and IL2R beta (rs743777, rs228941) genes in 146 Caucasian myasthenia gravis patients compared to 291 ethnically matched controls. A significant difference was found in the distribution of the rs4820293/rs743777 polymorphism haplotypes (p<0.01). The rs4820293 polymorphism, previously not described to be associated with any disease, does not affect LGALS1 expression in peripheral mononuclear cells and skeletal muscle. Pathway analysis revealed interaction between LGALS1 and IL2R beta suggesting a role of these proteins in this rare disease. (C) 2010 Elsevier B.V. All rights reserved.
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