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Basic information of CIITA :

Official Symbol of Gene CIITA
Species Homo sapiens
Entrez Gene ID 4261
Official Full Name class II major histocompatibility complex transactivator
Also known as C2TA; NLRA; MHC2TA; CIITAIV
Gene Type protein coding
dbXrefs Ensembl:ENSG00000179583 MIM:600005; AllianceGenome:HGNC:7067
Map Location 16p13.13
Variation Type SNP
refSNP ID rs3087456

Sample information of multiple sclerosis:

Detected Sample Peripheral blood
Sample Detail N/A
Detected Method PCR
Disease MS
Disease subtype N/A
Population Swedish
Sample Size 466 unrelated Swedish MG patients and 1866 healthy control individuals

Literature information of multiple sclerosis :

Pubmed ID 20942939
Year 2010
Title Lack of association of the CIITA -168AG promoter SNP with myasthenia gravis and its role in autoimmunity

Results of multiple sclerosis :

Risk Type Disease risk
Main Result We thus conclude that previous findings with regard to the role of the CIITA -168AG SNP in autoimmunity may have to be reconsidered
Result No significant association of the SNP with MG was detected, neither in the patient group as a whole, nor in any clinical subgroup. The vast majority of previous replication studies have also not found an association of the SNP with autoimmune disorders
Mechanism/Pathway The major histocompatibility complex class II transactivator (CIITA) regulates MHC class II gene expression