Basic information of IFIH1 :
| Official Symbol of Gene | IFIH1 |
| Species | Homo sapiens |
| Entrez Gene ID | 64135 |
| Official Full Name | interferon induced with helicase C domain 1 |
| Also known as | AGS7; Hlcd; MDA5; IMD95; MDA-5; RLR-2; IDDM19; SGMRT1 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000115267 MIM:606951; AllianceGenome:HGNC:18873 |
| Map Location | 2q24.2 |
| Variation Type | SNP |
| refSNP ID | rs1990760 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | NA |
| Detected Method | Real-Time PCR |
| Disease | MS |
| Disease subtype | MS |
| Population | Poland |
| Sample Size | 171MS/400Health |
Literature information of multiple sclerosis :
| Pubmed ID | 31733941 |
| Year | 2019 |
| Title | The interferon-induced helicase C domain-containing protein 1 gene variant (rs1990760) as an autoimmune-based pathology susceptibility factor |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | This study showed an association of rs1990760 polymorphism in the IFIH1 gene in the development of GD, LADA diabetes and MS within the Polish population. |
| Mechanism/Pathway | The aim of the present study was to analyse a possible association of three autoimmune disabilities - Multiple sclerosis (MS), LADA diabetes and Graves’ disease (GD) with single nucleotide polymorphism (SNP; rs1990760) in the IF IH1 gene (also known as a melanoma differentiation-associated protein 5 - MDA5) within the Polish population |
