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Basic information of IL18 :

Official Symbol of Gene IL18
Species Homo sapiens
Entrez Gene ID 3606
Official Full Name interleukin 18
Also known as IGIF; IL-18; IL-1g; IL1F4
Gene Type protein coding
dbXrefs Ensembl:ENSG00000150782 MIM:600953; AllianceGenome:HGNC:5986
Map Location 11q23.1
Variation Type SNP
refSNP ID IL-18 -137C/G and -607C/A

Sample information of multiple sclerosis:

Detected Sample peripheral blood and serum
Sample Detail N/A
Detected Method SS-PCR
Disease MS
Disease subtype Relapsing–Remitting (RRMS), Secondary Progressive (SP), Primary Progressive (PP) ,Relapsing Progressive (RP)
Population N/A
Sample Size 113 patients /135 ethnically-matched controls

Literature information of multiple sclerosis :

Pubmed ID 27177146
Year 2016
Title The association of IL-18 gene promoter polymorphisms and the levels of serum IL-18 on the risk of multiple sclerosis

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result IL-18 -607AA genotype indicated 6 times higher risk in the development of MS . Smoking seems to be an important confounding factor in MS patients with carrying IL-18 -607 AA and CA+AA genotypes. However, no meaningful association was found with IL-18 -137C/G gene promoter polymorphism.
Mechanism/Pathway IL18, is encoded by the IL18 gene, which induces severe inflammatory reactions. An important role of IL-18 has been shown in clinical implications such as elevated serum IL-18 levels in inflammatory as well as some autoimmune diseases including MS .A change at position -137 from G to C alters the H4TF-1 nuclear factor binding site, whereas a change from C to A at position -607 disrupts a potential cAMP-responsive element-binding protein binding site.