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 | intragenic polymorphisms |
| refSNP ID | N/A |
Sample information of multiple sclerosis:
| Detected Sample | Blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Swedish |
| Sample Size | 378 MS patients and 237 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 10408973 |
| Year | 1999 |
| Title | The CTLA-4 gene is associated with multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | positive |
| Result | We observed a significant association (p < 0.05) for homozygosity for the G49 allele in a case-control analysis of 378 MS patients and 237 controls, and a transmission disequilibrium (p < 0.02) for the G49 allele in 31 MS families. This was further corroborated by evidence for linkage by the affected pedigree member (APM) analysis (p < 0.0002) and a transmission distortion (p < 0.05) of the exon 4(642) polymorphism. |
| Mechanism/Pathway | Our results suggest that a dysregulation of CTLA-4-driven downregulation of T-cell activation could be involved in the pathogenesis of MS. |
