MS risk allele rs1883832T is associated with decreased mRNA expression of CD40

• Published in: Journal of molecular neuroscience Vol. 56; no. 3; pp. 540 - 545
• Main Authors: Wagner, Marta, Sobczyński, Maciej, Bilińska, Małgorzata, Pokryszko-Dragan, Anna, Cyrul, Małgorzata, Kuśnierczyk, Piotr, Jasek, Monika
• Format: Journal Article
• Language: English
• Published: New York Springer US 01-07-2015; Springer Nature B.V
• Subjects: Alleles; Autoimmune diseases; Biomedical and Life Sciences; Biomedicine; Case-Control Studies; CD40 Antigens - genetics; Cell Biology; Consortia; Disease; Down-Regulation; Female; Gene expression; Genetics; Genomics; Humans; Immunology; Ligands; Male; Multiple sclerosis; Multiple Sclerosis, Relapsing-Remitting - genetics; Neurochemistry; Neurology; Neurosciences; Polymorphism, Single Nucleotide; Proteomics; RNA, Messenger - genetics; RNA, Messenger - metabolism; Womens health; New Zealand; Poland; Australia; CD40L; Multiple sclerosis; CD40; mRNA expression
• ISSN: 0895-8696; 1559-1166
• DOI: 10.1007/s12031-015-0490-0

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.