Interleukin-4 receptor alpha polymorphisms in autoimmune myasthenia gravis in a Caucasian population

Zsuzsanna Pál, Zsófia Varga, Ágnes Semsei, Viktória Reményi, Csilla Rózsa, András Falus, Zsolt Illes, Edit Irén Buzás, Maria Judit Molnar

Research output: Article

11 Citations (Scopus)

Abstract

Autoimmune myasthenia gravis is a T-cell-dependent, antibody-mediated, rare neuromuscular disorder. Interleukin-4, acting via interleukin-4 receptor alpha, plays a pivotal role in B-cell differentiation and antibody production and has been implicated to influence disease progression in experimental autoimmune myasthenia gravis. Polymorphisms of the interleukin-4 receptor alpha gene have been shown to be associated with various autoimmune diseases. We compared the distribution of three polymorphisms of the interleukin-4 receptor alpha gene (S503P, rs1805015, Q576R, rs1801275, I75V, rs1805010), all affecting interleukin-4 signaling, in two cohorts of myasthenia gravis patients with ethnically matched controls. Although the distribution of the S503P and Q576R polymorphisms did not differ significantly between the groups, the frequency of the GG rare homozygote genotype of the I75V polymorphism was significantly higher in patients with myasthenia gravis. Our data suggest that the reduced responsiveness to interleukin-4 because the I75V polymorphism may contribute to the pathogenesis of myasthenia gravis.

Original languageEnglish
Pages (from-to)193-195
Number of pages3
JournalHuman Immunology
Volume73
Issue number2
DOIs
Publication statusPublished - febr. 1 2012

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ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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