title: 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 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.
authors: Clinical and Research Centre for Molecular Neurology, Semmelweis University, Budapest, Hungary.
authors: Zsuzsanna
authors: Z
authors: Pál
authors: Zsófia
authors: Z
authors: Varga
authors: Ágnes
authors: Á
authors: Semsei
authors: Viktória
authors: V
authors: Reményi
authors: Csilla
authors: C
authors: Rózsa
authors: András
authors: A
authors: Falus
authors: Zsolt
authors: Z
authors: Illes
authors: Edit Irén
authors: EI
authors: Buzás
authors: Maria Judit
authors: MJ
authors: Molnar
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005828:Genetics, Population; D006801:Humans; D008297:Male; D008875:Middle Aged; D009157:Myasthenia Gravis / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology; D011110:Polymorphism, Genetic; D019948:Receptors, Interleukin-4 / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: D019948:Receptors, Interleukin-4