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 | NA |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | MS |
| Population | NA |
| Sample Size | N=8 |
Literature information of multiple sclerosis :
| Pubmed ID | 12507781 |
| Year | 2003 |
| Title | CTLA4 is associated with susceptibility to multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | Being homozygous for AT8 (common) allele of the 3V(514) microsatellite (OR: 1.69; CI: 0.99 – 2.86) and for the common 5V(318)*C/E1(49)*A/3V(514*AT8 haplotype (OR: 1.96; CI: 1.13 – 3.39) was associated with increased susceptibility to MS in Olmsted County. |
| Mechanism/Pathway | We comprehensively screened CTLA4 for novel genetic variations in patients with MS. |
