title: MS risk allele rs1883832T is associated with decreased mRNA expression of CD40.
abstract: CD40-CD40L interactions mediate T-dependent B cell response and efficient T cell priming. Therefore, genes encoding these molecules are attractive candidates for studies on autoimmune diseases, such as multiple sclerosis (MS), in which activated T and B cells are involved. Thus, we analyzed CD40 and CD40L mRNA expression in whole blood samples from MS patients and controls. Additionally, we examined the effect of three SNPs of CD40 (rs1883832C>T, rs11569343C>G, and rs752118C>T) and two SNPs of CD40L (rs3092923T>C and rs3092952A>G) on their mRNA expression. Our results showed that the rs1883832C>T SNP affects CD40 gene expression. Our analysis revealed that individuals possessing CT and TT genotypes (predisposing to MS) had decreased level of CD40 mRNA in comparison to those with CC. Moreover, we demonstrated the potential role of impaired CD40-CD40L interaction in developing of multiple sclerosis.
authors.affiliation: Laboratory of Immunogenetics and Tissue Immunology, Department of Clinical Immunology, Ludwik Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, ul. Weigla 12, 53-114, Wrocław, Poland, marta_wagner@o2.pl.
authors.forename: Marta
authors.initials: M
authors.lastname: Wagner
authors.forename: Maciej
authors.initials: M
authors.lastname: Sobczyński
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Bilińska
authors.forename: Anna
authors.initials: A
authors.lastname: Pokryszko-Dragan
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Cyrul
authors.forename: Piotr
authors.initials: P
authors.lastname: Kuśnierczyk
authors.forename: Monika
authors.initials: M
authors.lastname: Jasek
mesh_terms: D000483:Alleles; D019013:CD40 Antigens / Q000235:genetics*; D016022:Case-Control Studies; D015536:Down-Regulation; D005260:Female; D006801:Humans; D008297:Male; D020529:Multiple Sclerosis, Relapsing-Remitting / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism*
chemical_list: D019013:CD40 Antigens; D012333:RNA, Messenger