Basic information of CTLA4 :
| Official Symbol of Gene | CTLA4 |
| Species | Homo sapiens |
| Entrez Gene ID | 2505 |
| 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 | rs5742909 |
Sample information of multiple sclerosis:
| Detected Sample | brain |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | 179 MS cases |
Literature information of multiple sclerosis :
| Pubmed ID | 31228212 |
| Year | 2020 |
| Title | Post-mortem multiple sclerosis lesion pathology is influenced by single nucleotide polymorphisms |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | Three SNPs linked to MS pathology-associated genes showed a significant association with either proportion of active lesions (rs3130253/MOG), incidence of cortical gray matter lesions (rs1064395/NCAN) or the proportion of remyelinated lesions (rs5742909/CTLA4) |
| Mechanism/Pathway | This is in part because of the difficulty in the functional translation of genotype into disease-relevant mechanisms |
