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

J Neuroimmunol. 2010 Dec 15;229(1-2):107-11. doi: 10.1016/j.jneuroim.2010.07.015. Epub 2010 Aug 21.

Abstract

Galectin-1 (LGALS1) and interleukin receptor 2β (IL2Rβ) are regulators of T-cell activation. Here we evaluated the association of regulatory region polymorphisms of the LGALS1 (rs4820293, rs4820294) and IL2Rβ (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 IL2Rβ suggesting a role of these proteins in this rare disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Analysis of Variance
  • Antibodies / blood
  • Female
  • Galectin 1 / genetics*
  • Gene Expression Regulation / genetics
  • Gene Frequency / physiology
  • Genetic Predisposition to Disease / genetics*
  • Haplotypes / genetics
  • Humans
  • Interleukin-2 Receptor beta Subunit / genetics*
  • Leukocytes, Mononuclear / metabolism
  • Male
  • Middle Aged
  • Muscle, Skeletal / metabolism
  • Myasthenia Gravis / genetics*
  • Myasthenia Gravis / immunology
  • Myasthenia Gravis / pathology
  • Polymorphism, Single Nucleotide / genetics
  • Radioimmunoassay / methods
  • Receptors, Cholinergic / immunology
  • White People
  • Young Adult

Substances

  • Antibodies
  • Galectin 1
  • Interleukin-2 Receptor beta Subunit
  • Receptors, Cholinergic