Basic information of CTLA4 :
| Official Symbol of Gene | CTLA4 |
| Species | Homo sapiens |
| Entrez Gene ID | 1493 |
| Official Full Name | cytotoxic T-lymphocyte associated protein 4 |
| Also known as | CD; GSE; GRD4; ALPS5; CD152; CTLA-4; IDDM12; CELIAC3 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000163599 MIM:123890; AllianceGenome:HGNC:2505 |
| Map Location | 2q33.2 |
| Variation Type | SNP |
| refSNP ID | A49G |
Sample information of multiple sclerosis:
| Detected Sample | N/A |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Southern Australians |
| Sample Size | 198 MS patients / 224 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 18378005 |
| Year | 2008 |
| Title | CTLA-4 and multiple sclerosis: the A49G single nucleotide polymorphism shows no association with multiple sclerosis in a Southern Australian population |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | There were no significant associations between the A49G genotype and risk of MS. There was a marginal trend towards increased risk of disease amongst AG heterozygotes compared to AA homozygotes. |
| Mechanism/Pathway | Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4; CD152) is expressed on activated CD4+ and CD8+ T cells and acts to down-regulate T cell function during co-stimulation.Changes in expression or function of the protein may influence the development of autoimmunity.Genetic CTLA-4 variants have been implicated in determining susceptibility to autoimmune diseases . |
