Basic information of IRF5 :
| Official Symbol of Gene | IRF5 |
| Species | Homo sapiens |
| Entrez Gene ID | 3663 |
| Official Full Name | interferon regulatory factor 5 |
| Also known as | SLEB10 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000128604 MIM:607218; AllianceGenome:HGNC:6120 |
| Map Location | 7q32.1 |
| Variation Type | N/A |
| refSNP ID | rs4728142 |
Sample information of multiple sclerosis:
| Detected Sample | Peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Spain, Sweden and Finland |
| Sample Size | 660 Spanish MS patientsã€The Swedish cohort consisted of 1166 MS patients (67% females) and 1235 controls (63% females)ã€The Finnish cohort consisted of 511 MS trio-families recruited at five centres |
Literature information of multiple sclerosis :
| Pubmed ID | 18285424 |
| Year | 2008 |
| Title | Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | These findings add IRF5 to the short list of genes shown to be associated with MS in more than one population. Our study adds to the evidence that there might be genes or pathways that are common in multiple autoimmune diseases, and that the type I interferon system is likely to be involved in the development of these diseases |
| Result | Two single nucleotide polymorphism (SNPs) (rs4728142, rs3807306), and a 5 bp insertion-deletion polymorphism located in the promoter and first intron of the IRF5 gene, showed association signals with values of p,0.001 when the data from all cohorts were combined.The predisposing alleles were present on the same common haplotype in all populations. Using electrophoretic mobility shift assays we observed allele specific differences in protein binding for the SNP rs4728142 and the 5 bp indel, and by a proximity ligation assay we demonstrated increased binding of the transcription factor SP1 to the risk allele of the 5 bp indel. |
| Mechanism/Pathway | IRF5 is a transcription factor involved both in the type I interferon and the toll-like receptor signalling pathways |
