A novel galectin-1 and interleukin 2 receptor beta haplotype is associated with autoimmune myasthenia gravis

作者：Pal Zsuzsanna; Antal Peter; Millinghoffer Andras; Hullam Gabor; Paloczi Krisztina; Toth Sara; Gabius Hans Joachim; Molnar Maria Judit; Falus Andras; Buzas Edit Iren^*

来源：Journal of Neuroimmunology, 2010, 229(1-2): 107-111.

DOI：10.1016/j.jneuroim.2010.07.015

• Myasthenia
• SNP
• LGALS1

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.

• 出版日期2010-12-15