A novel galectin-1 and interleukin 2 receptor β haplotype is associated with autoimmune myasthenia gravis.
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.
Pál
Zsuzsanna
Z
Center for Molecular Neurology, Department of Neurology, Semmelweis University, Budapest, Hungary.
Antal
Péter
P
Millinghoffer
András
A
Hullám
Gábor
G
Pálóczi
Krisztina
K
Tóth
Sára
S
Gabius
Hans-Joachim
HJ
Molnár
Mária Judit
MJ
Falus
András
A
Buzás
Edit Irén
EI
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
D000906:Antibodies; D037483:Galectin 1; D053646:Interleukin-2 Receptor beta Subunit; D011950:Receptors, Cholinergic