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

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 expe...

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Bibliographic Details
Published in:Human immunology 2012-02, Vol.73 (2), p.193-195
Main Authors: Pál, Zsuzsanna, Varga, Zsófia, Semsei, Ágnes, Reményi, Viktória, Rózsa, Csilla, Falus, András, Illes, Zsolt, Buzás, Edit Irén, Molnar, Maria Judit
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age of Onset
Aged
Aged, 80 and over
Allergy and Immunology
Autoimmunity
European Continental Ancestry Group - genetics
Female
Genetics, Population
Humans
IL4R
Male
Middle Aged
Myasthenia gravis
Myasthenia Gravis - genetics
Myasthenia Gravis - immunology
Myasthenia Gravis - physiopathology
Polymorphism, Genetic
Receptors, Interleukin-4 - genetics
SNP
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Summary: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.
ISSN:0198-8859
1879-1166
DOI:10.1016/j.humimm.2011.11.001