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Basic information of IRF8 :

Official Symbol of Gene IRF8
Species Homo sapiens
Entrez Gene ID 5358
Official Full Name interferon regulatory factor 8
Also known as ICSBP; IRF-8; ICSBP1; IMD32A; IMD32B; H-ICSBP
Gene Type protein coding
dbXrefs Ensembl:ENSG00000140968 MIM:601565; AllianceGenome:HGNC:5358
Map Location 16q24.1
Variation Type SNP
refSNP ID rs35929052

Sample information of multiple sclerosis:

Detected Sample peripheral blood
Sample Detail N/A
Detected Method PCR
Disease MS
Disease subtype N/A
Population N/A
Sample Size 195 MS cases and 60 controls

Literature information of multiple sclerosis :

Pubmed ID 31004050
Year 2019
Title MAPK pathway and B cells overactivation in multiple sclerosis revealed by phosphoproteomics and genomic analysis

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result the CT genotype of the rs35929052 SNP [located on IFN regulatory factor 8 (IRF8) gene, a key target of vitamin D receptor; refs. 11 and 12] had a significant influence on MAP2K1 phosphorylation after stimulation with vitamin D3
Mechanism/Pathway The changes in the activation of these kinases suggest that these pathways may represent therapeutic targets for modulation by kinase inhibitors.