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Basic information of CTLA-4 :

Official Symbol of Gene CTLA-4
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 NA

Sample information of multiple sclerosis:

Detected Sample peripheral blood
Sample Detail NA
Detected Method PCR/TaqMan Assay/multiplex SNaPshot assay
Disease MS
Disease subtype All patients satisfied the Poser criteria for definite (95%), or probable (5%) multiple sclerosis; 60% had relapsing, 31% secondary progressive and 9% primary progressive multiple sclerosis.
Population NA
Sample Size 771 patients

Literature information of multiple sclerosis :

Pubmed ID 16325273
Year 2016
Title No evidence of a significant role for CTLA-4 in multiple sclerosis

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Negative
Result No individual marker or common haplotype showed evidence of association with disease. These data suggest that any effect of CTLA-4 on multiple sclerosis susceptibility is likely to be very small.
Mechanism/Pathway V ariation in the cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) gene plays a significant role in determining susceptibility to autoimmune thyroid disease and type 1 diabetes.