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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 rs4774 * C

Sample information of multiple sclerosis:

Detected Sample Blood
Sample Detail N/A
Detected Method PCR
Disease MS
Disease subtype RRMS
Population Brazilian
Sample Size 52 relapsing-remitting MS (RRMS) patients and 126 healthy controls

Literature information of multiple sclerosis :

Pubmed ID 25992516
Year 2015
Title The CIITA genetic polymorphism rs4774*C in combination with the HLA-DRB1*15:01 allele as a putative susceptibility factor to multiple sclerosis in Brazilian females

Results of multiple sclerosis :

Risk Type Disease risk
Main Result positive
Result Furthermore, we observed that the +1614G/C mutation in combination with the HLA-DRB1*15:01 allele increased susceptibility to MS in females (OR = 4.55; p = 0.01).
Mechanism/Pathway N/A