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Basic information of IRF5 :

Official Symbol of Gene IRF5
Species Homo sapiens
Entrez Gene ID 3663
Official Full Name interferon regulatory factor
Also known as SLEB10
Gene Type protein coding
dbXrefs Ensembl:ENSG00000128604 MIM:607218; AllianceGenome:HGNC:6120
Map Location 7q32.1
Variation Type SNP
refSNP ID rs47281420-AA

Sample information of multiple sclerosis:

Detected Sample Peripheral blood
Sample Detail N/A
Detected Method Taqman Genotyping Assay
Disease MS
Disease subtype RRMS
Population N/A
Sample Size 261 RRMS patients

Literature information of multiple sclerosis :

Pubmed ID 21471993
Year 2011
Title Interferon regulatory factor 5 gene variants and pharmacological and clinical outcome of Interferonb therapy in multiple sclerosis

Results of multiple sclerosis :

Risk Type Disease risk
Main Result The clinical relevance of the rs2004640-TT genotype was validated in an independent cohort wherein a shorter time to first relapse was found (P 0.037). These findings suggest a role for IRF5 gene variation in the pharmacological and clinical outcome of IFNb therapy that might have relevance as biomarker to predict the response to IFNb in multiple sclerosis
Result We found that patients with the IRF5 rs2004640-TT and rs47281420-AA genotype exerted a poor pharmacological response to IFNb compared with patients carrying the respective G-alleles (P 0.0006 and P 0.0023, respectively). Moreover, patients with the rs2004640-TT genotype developed more magnetic resonance imaging (MRI)-based T2 lesions during IFNb treatment (P 0.003). Accordingly, an association between MRI-based non-responder status and rs2004640-TT genotype was observed (P 0.010). For the rs4728142-AA genotype a trend of an association with more T2 lesions during IFNb treatment and MRI-based non-responder status was observed (P 0.103 and P 0.154, respectively).
Mechanism/Pathway Clinical non-responders were characterized by an increased expression of IFN response genes before the start of therapy, and a lack of a pharmacologically induced increase in IFN response gene activity. Because Interferon Regulatory Factor 5 (IRF5) is a master regulator of IFN-activity, we carried out a candidate gene study of IRF5 gene variants in relation to the pharmacological and clinical response upon IFNb treatment