Basic information of CIITA :
| Official Symbol of Gene | CIITA |
| Species | Homo sapiens |
| Entrez Gene ID | 4261 |
| Official Full Name | class II major histocompatibility complex transactivator |
| Also known as | C2TA; NLRA; MHC2TA; CIITAIV |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000179583 MIM:600005; AllianceGenome:HGNC:7067 |
| Map Location | 16p13.13 |
| Variation Type | haplotype |
| refSNP ID |
|
Sample information of multiple sclerosis:
| Detected Sample | blood |
| Sample Detail | N/A |
| Detected Method | Fast Realâ€Time PCR |
| Disease | MS |
| Disease subtype | RRMS, PPMS, SPMS |
| Population | Spanish |
| Sample Size | 396 MS patients / 519 healthy controls |
Literature information of multiple sclerosis :
| Pubmed ID | 17012290 |
| Year | 2006 |
| Title | Role of the MHC2TA gene in autoimmune diseases |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | No independent association with MS was found for either polymorphism in the Spanish cohorts tested.However, when haplotypes were compared between patients with MS and controls, a significant difference in their overall frequency distribution was observed, evidencing a protective haplotype and a risk haplotype.The MHC2TA gene influences predisposition to MS. The -168G allele is not an aetiological variant in itself, but a genetic marker of susceptibility/protection haplotypes. |
| Mechanism/Pathway | MHC class II molecules are cellâ€surface glycoproteins of critical importance to the adaptive immune response, as they present peptides to antigen receptors of CD4 T cells.The class II transactivator CIITA is the key element to exquisitely control the levels of MHCII expression.MHCII molecules are critical in T cellâ€dependent immunity and in inflammatory response, and they contribute to numerous diseases including MS. |
