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 | Allele |
| refSNP ID | NA |
Sample information of multiple sclerosis:
| Detected Sample | Peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | NA |
| Population | NA |
| Sample Size | 133MS/156Health |
Literature information of multiple sclerosis :
| Pubmed ID | 15652423 |
| Year | 2005 |
| Title | CTLA-4 gene polymorphism is not associated with conventional multiple sclerosis in Japanese |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | Our results suggest that CTLA-4 gene polymorphisms are neither conclusively related to susceptibility nor to the clinical characteristics of MS, especially in Japanese patients with conventional/classical form and clinical features identical to those of their counterparts in Western countries. |
| Mechanism/Pathway | We investigated the polymorphisms of exon 1 (+49A/G) and promoter (?318C/T and ?651C/T) regions of the CTLA-4 gene in 133 Japanese patients with conventional/classical multiple sclerosis (MS) and 156 healthy controls. Patients with optico-spinal MS (OSMS) or atypical clinical attacks were excluded from the study. There was no significant difference in the distribution of polymorphisms between patients and controls. |
