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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 SNP
refSNP ID +10717

Sample information of multiple sclerosis:

Detected Sample peripheral blood
Sample Detail PBMCs
Detected Method SNaPshotTM Multiplex Kit
Disease MS
Disease subtype N/A
Population southern-European ancestry (Spain and Portugal)
Sample Size 152 healthy individuals,146 patients with MS

Literature information of multiple sclerosis :

Pubmed ID 18691768
Year 2008
Title Genomic regulation of CTLA4 and Multiple Sclerosis

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result SNPs at 1577, +6230, +10242, +10717 and +12310 influence CTLA4 expression and the combination of the 1577 GG and +6230 GG genotypes provokes the strongest decrease in CTLA4 gene expression
Mechanism/Pathway N/A