title: Interleukin-10 promoter polymorphisms in myasthenia gravis.
abstract: Interleukin 10 (IL-10) is secreted by several hemopoietic cells and suppresses the Th1 mediated immune response, while stimulating B cell differentiation and the humoral immune response. IL-10 expression in Con A-stimulated peripheral blood mononuclear cells is related to three polymorphisms in the promoter region of the IL-10 gene; G/A at position -1082, T/C at position -819 and A/C at position -592. We analyzed the distribution of these IL-10 polymorphisms in 64 MG patients and 87 healthy blood donors to determine any influence on MG susceptibility. MG patients had a significantly higher frequency of the ACC/ACC haplotype (12.5% vs 3.4% in controls), as had the subgroups with late onset MG and thymomatous MG (20.0% and 21.4%, respectively). Early onset MG patients had a high frequency of the ATA/ATA haplotype (19.2% vs 3.4% in controls). Titin Ab-positive MG patients had high ACC/ACC (20.0%). This study indicates a direct link between IL-10 and MG pathogenesis, although the complex role of this multi-faceted cytokine in vivo is as yet not fully elucidated.
authors.affiliation: Department of Clinical Medicine, University of Bergen, Norway. Espen.Alseth@student.uib.no
authors.forename: Espen Homleid
authors.initials: EH
authors.lastname: Alseth
authors.forename: Hanne Linda
authors.initials: HL
authors.lastname: Nakkestad
authors.forename: Jan
authors.initials: J
authors.lastname: Aarseth
authors.forename: Nils Erik
authors.initials: NE
authors.lastname: Gilhus
authors.forename: Geir Olve
authors.initials: GO
authors.lastname: Skeie
mesh_terms: D001323:Autoantibodies / Q000097:blood; D064211:Connectin; D004252:DNA Mutational Analysis; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D016753:Interleukin-10 / Q000096:biosynthesis / Q000235:genetics*; D009124:Muscle Proteins / Q000276:immunology; D009157:Myasthenia Gravis / Q000097:blood / Q000235:genetics* / Q000276:immunology*; D011110:Polymorphism, Genetic / Q000235:genetics*; D011237:Predictive Value of Tests; D011401:Promoter Regions, Genetic / Q000235:genetics*; D011494:Protein Kinases / Q000276:immunology; D013945:Thymoma / Q000097:blood / Q000235:genetics / Q000276:immunology
chemical_list: D001323:Autoantibodies; D064211:Connectin; D009124:Muscle Proteins; C577285:TTN protein, human; D016753:Interleukin-10; D011494:Protein Kinases