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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 rs5742906

Sample information of multiple sclerosis:

Detected Sample venous blood
Sample Detail N/A
Detected Method Genomic DNA Extraction and SNV Analysis
Disease MS
Disease subtype N/A
Population Polish population
Sample Size 94 MS cases and 160 controls

Literature information of multiple sclerosis :

Pubmed ID 33224992
Year 2020
Title Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Negative
Result Of the three polymorphisms tested in the CTLA4 gene, our study showed significant differences in allele and genotype frequencies only for rs3087243.
Mechanism/Pathway The CTLA-4 gene has been associated with susceptibility to MS