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Updated: Apr 18, 2026

Investigating Target Gene Function in a CD40 Agonistic Antibody-induced Colitis Model using CRISPR/Cas9-based Technologies
Published on: June 2, 2021
MS risk allele rs1883832T is associated with decreased mRNA expression of CD40
Marta Wagner1, Maciej Sobczyński, Małgorzata Bilińska
1Laboratory 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.
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.
Insights
Investigating CD40 and CD40L gene expression in multiple sclerosis (MS) revealed a link between specific CD40 gene variants and reduced CD40 mRNA levels. This suggests impaired CD40-CD40L interactions may contribute to MS development.
Area of Science:
- Immunology
- Genetics
- Neuroscience
Background:
- CD40-CD40L interactions are crucial for immune responses involving T and B cells.
- These interactions are implicated in autoimmune diseases like multiple sclerosis (MS), characterized by activated immune cells.
Purpose of the Study:
- To analyze CD40 and CD40L mRNA expression in MS patients and controls.
- To investigate the impact of specific CD40 and CD40L single nucleotide polymorphisms (SNPs) on gene expression.
Main Methods:
- Analysis of CD40 and CD40L mRNA expression in whole blood samples.
- Examination of the association between selected CD40 and CD40L SNPs and their respective mRNA levels.
Main Results:
- The CD40 rs1883832C>T SNP significantly affects CD40 gene expression.
- Individuals with CT and TT genotypes at rs1883832, associated with MS predisposition, exhibited lower CD40 mRNA levels compared to CC genotype.
Conclusions:
- Impaired CD40-CD40L interaction is potentially involved in the pathogenesis of multiple sclerosis.
- The rs1883832C>T polymorphism in CD40 may influence MS susceptibility through altered gene expression.
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