Basic information of USP18 :

Official Symbol of Gene	USP18
Species	Homo sapiens
Entrez Gene ID	11274
Official Full Name	ubiquitin specific peptidase 18
Also known as	ISG43; UBP43; PTORCH2
Gene Type	protein coding
dbXrefs	Ensembl:ENSG00000184979 MIM:607057; AllianceGenome:HGNC:12616
Map Location	22q11.21
Variation Type	SNP
refSNP ID	rs2542109

Sample information of multiple sclerosis:

Detected Sample	Peripheral blood
Sample Detail	N/A
Detected Method	real-time PCR
Disease	MS
Disease subtype	N/A
Population	Spanish
Sample Size	691 unrelated relapseonset MS patients/The healthy control population comprised 1028

Literature information of multiple sclerosis :

Pubmed ID	23700969
Year	2013
Title	Roles of the ubiquitin peptidase USP18 in multiple sclerosis and the response to interferon-b treatment

Results of multiple sclerosis :

Risk Type	Disease risk
Main Result	Altogether, these results point to a role of USP18 in MS pathogenesis and the therapeutic response to IFNb.
Result	Two USP18 haplotypes were significantly associated with MS, TG and CG. Additional experiments revealed that CG carriers were characterized by lower USP18 gene expression levels in peripheral blood mononuclear cells and higher clinical disease activity. Finally, AA homozygosis for the intronic polymorphism rs2542109 was associated with the responder phenotype; however, USP18 expression levels induced by IFNb did not differ amongst MS patients carrying different rs2542109 genotypes
Mechanism/Pathway	Ubiquitin specific peptidase 18 (USP18) is a deubiquitinating enzyme that functions as a negative regulator of the type I interferon (IFN) signalling pathway and is specifically induced by type I IFNs. In the present study, previous observations by our group were expanded suggesting an implication of USP18 in multiple sclerosis (MS) based on the finding of a deficient expression of the gene in peripheral blood mononuclear cells from MS patients compared with healthy controls