Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation disease BEFREE 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. 25992516 2015
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation disease BEFREE In conclusion, our findings support previous data that variability in the CIITA gene affects MS risk, but also that the effect is modulated by MS-associated HLA haplotypes. 24430172 2014
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 AlteredExpression disease BEFREE Furthermore, 58/99 (58.6%) MS patients without HHV-6 along the five programmed visits and an increase of MHC2TA expression after two-years of IFN-beta treatment were clinical responders vs. 5/21 (23.8%) among those MS patients with HHV-6 and a decrease of MHC2TA mRNA levels along the two-years with IFN-beta treatment (p = 0.004); no differences were found between patients with and without NAbs. 23009575 2012
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation disease BEFREE The major histocompatibility complex class II transactivator (CIITA) gene (16p13) has been reported to associate with susceptibility to multiple sclerosis, rheumatoid arthritis and myocardial infarction, recently also to celiac disease at genome-wide level. 23052709 2012
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation disease BEFREE Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA-CLEC16A-SOCS1 gene complex. 21653641 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 Biomarker disease BEFREE In conclusion, we describe a gene-environment interaction in MS patients between HHV-6 and MHC2TA and CD46 that should be further studied to clarify if that interaction could be a genetic control. 21962857 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation disease BEFREE This region includes the CLEC16A/KIAA0350 gene and an adjacent gene, MHC2TA (MHC class II transactivator), previously associated with susceptibility to MS and rheumatoid arthritis (RA). 19221398 2010
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation disease BEFREE In addition, the -168A/G CIITA promoter variant (rs3087456) has been reported to be associated with MS. 20211854 2010
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation disease BEFREE The objectives of this study were: (i) to reappraise the association that was found in the previous study; (ii) to evaluate if MS patients with minor allele C and HHV-6A active infection had different clinical behavior; and (iii) to analyze the possible association of MHC2TA rs4774C with Epstein-Barr virus (EBV). 19659749 2010
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation disease BEFREE The results of this study cannot support the notion that methylation of the pIV promoter of MHC2TA contributes to MS disease risk, although tissue and timing specific epigenetic modifications cannot be ruled out. 18606010 2008
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation disease BEFREE The MHC2TA-168A/G and +1614G/C polymorphisms and risk for multiple sclerosis or chronic inflammatory arthropathies. 17661914 2007
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation disease BEFREE Single-nucleotide polymorphisms (SNPs) in the major histocompatibility complex class II transactivator (MHC2TA) gene encoding the class II transactivator have been associated with multiple sclerosis, rheumatoid arthritis, and myocardial infarction in the Swedish population. 17711409 2007
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 AlteredExpression disease BEFREE CIITA is a transcription factor controlling the expression of MHC class II genes, the main genetic determinants of MS susceptibility. 17678724 2007
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation disease BEFREE The MHC2TA gene influences predisposition to rheumatoid arthritis and multiple sclerosis, but not to IBD. 17012290 2007
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation disease BEFREE We analysed whether the single nucleotide polymorphism (SNP) rs3087456 in the promoter of the MHC class II transactivator (MHC2TA) gene is associated with manifestation of rheumatoid arthritis, multiple sclerosis, narcolepsy and Wegener granulomatosis. 16426246 2006
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation disease BEFREE In this study we searched for polymorphisms in the 5' and 3' ends of the human CIITA gene to assess whether or not there is an association between alleles of this gene and multiple sclerosis (MS). 11295470 2001
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 AlteredExpression disease BEFREE We show that phagocytic macrophages in active demyelinating MS lesions displayed a moderate to strong immunostaining of the MHC-specific transcription factors RFX and CIITA, as well as the general transcription factors NF-kappaB, IRF1, STAT1, USF, and CREB, which was congruent with a strongly enhanced expression of HLA-DR, HLA-DQ, HLA-DP, and HLA class I. 11571785 2001