Basic information of CD40 :
| 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 | polymorphism |
| refSNP ID | C/T |
Sample information of multiple sclerosis:
| Detected Sample | EDTA blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | RRMS,PPMS,SPMS |
| Population | N/A |
| Sample Size | 287 MS patients / 184 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 17026470 |
| Year | 2006 |
| Title | Analysis of the C/T(-1) single nucleotide polymorphism in the CD40 gene in multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | No significant differences were found in the frequency of the C/T(-1) polymorphism between the patients with MS and the controls or among different MS subtypes. |
| Mechanism/Pathway | The cell surface receptor CD40, a member of the tumor necrosis factor receptor family, is expressed on all nonterminally differentiated B cells and plays a fundamental role in B-cell activation and in regulation of adaptive immune responses.T allele results in a diminished expression of CD40 in an in vitro transcription/translation system and that the C/T CD40 polymorphism acts at the level of gene translation, modulating B-cell–T-cell interactions in autoimmune reactions by affecting expression of the CD40 protein. |
