title: A novel galectin-1 and interleukin 2 receptor β haplotype is associated with autoimmune myasthenia gravis.
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.
authors: Center for Molecular Neurology, Department of Neurology, Semmelweis University, Budapest, Hungary.
authors: Zsuzsanna
authors: Z
authors: Pál
authors: Péter
authors: P
authors: Antal
authors: András
authors: A
authors: Millinghoffer
authors: Gábor
authors: G
authors: Hullám
authors: Krisztina
authors: K
authors: Pálóczi
authors: Sára
authors: S
authors: Tóth
authors: Hans-Joachim
authors: HJ
authors: Gabius
authors: Mária Judit
authors: MJ
authors: Molnár
authors: András
authors: A
authors: Falus
authors: Edit Irén
authors: EI
authors: Buzás
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000704:Analysis of Variance; D000906:Antibodies / Q000097:blood; D005260:Female; D037483:Galectin 1 / Q000235:genetics*; D005786:Gene Expression Regulation / Q000235:genetics; D005787:Gene Frequency / Q000502:physiology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D053646:Interleukin-2 Receptor beta Subunit / Q000235:genetics*; D007963:Leukocytes, Mononuclear / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism; D009157:Myasthenia Gravis / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011863:Radioimmunoassay / Q000379:methods; D011950:Receptors, Cholinergic / Q000276:immunology; D044465:White People; D055815:Young Adult
chemical_list: D000906:Antibodies; D037483:Galectin 1; D053646:Interleukin-2 Receptor beta Subunit; D011950:Receptors, Cholinergic