Document Detail


A novel galectin-1 and interleukin 2 receptor β haplotype is associated with autoimmune myasthenia gravis.
MedLine Citation:
PMID:  20728947     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Zsuzsanna Pál; Péter Antal; András Millinghoffer; Gábor Hullám; Krisztina Pálóczi; Sára Tóth; Hans-Joachim Gabius; Mária Judit Molnár; András Falus; Edit Irén Buzás
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-08-21
Journal Detail:
Title:  Journal of neuroimmunology     Volume:  229     ISSN:  1872-8421     ISO Abbreviation:  J. Neuroimmunol.     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2010-11-24     Completed Date:  2010-12-17     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8109498     Medline TA:  J Neuroimmunol     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  107-11     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Elsevier B.V. All rights reserved.
Affiliation:
Center for Molecular Neurology, Department of Neurology, Semmelweis University, Budapest, Hungary.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Aged
Aged, 80 and over
Analysis of Variance
Antibodies / blood
European Continental Ancestry Group
Female
Galectin 1 / genetics*
Gene Expression Regulation / genetics
Gene Frequency / physiology
Genetic Predisposition to Disease / genetics*
Haplotypes / genetics
Humans
Interleukin-2 Receptor beta Subunit / genetics*
Leukocytes, Mononuclear / metabolism
Male
Middle Aged
Muscle, Skeletal / metabolism
Myasthenia Gravis / genetics*,  immunology,  pathology
Polymorphism, Single Nucleotide / genetics
Radioimmunoassay / methods
Receptors, Cholinergic / immunology
Young Adult
Chemical
Reg. No./Substance:
0/Antibodies; 0/Galectin 1; 0/Interleukin-2 Receptor beta Subunit; 0/Receptors, Cholinergic

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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