Home Details
| Official Symbol of Gene | CD40 |
| Species | Homo sapiens |
| Entrez Gene ID | 958 |
| Official Full Name | CD40 molecule |
| Also known as | p50; Bp50; CDW40; TNFRSF5 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000101017 MIM:109535; AllianceGenome:HGNC:11919 |
| Map Location | 20q13.12 |
| Variation Type | SNP |
| refSNP ID | rs752118C |
| Detected Sample | Peripheral blood |
| Sample Detail | N/A |
| Detected Method | Real-time PCR |
| Disease | MS |
| Disease subtype | RR MS |
| Population | N/A |
| Sample Size | 39 patients/40 volunteers |
| Pubmed ID | 25600834 |
| Year | 2014 |
| Title | MS risk allele rs1883832T is associated with decreased mRNA expression of CD40 |
| Risk Type | Disease risk |
| Main Result | 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 |
| Result | 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 |
| Mechanism/Pathway | Abstract CD40-CD40L interactions mediate T-dependent B cell response and efficient T cell priming |

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