RGD Reference Report - MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction. - Rat Genome Database

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MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction.

Authors: Swanberg, M  Lidman, O  Padyukov, L  Eriksson, P  Akesson, E  Jagodic, M  Lobell, A  Khademi, M  Borjesson, O  Lindgren, CM  Lundman, P  Brookes, AJ  Kere, J  Luthman, H  Alfredsson, L  Hillert, J  Klareskog, L  Hamsten, A  Piehl, F  Olsson, T 
Citation: Swanberg M, etal., Nat Genet 2005 May;37(5):486-94. Epub 2005 Apr 10.
RGD ID: 1358146
Pubmed: PMID:15821736   (View Abstract at PubMed)
DOI: DOI:10.1038/ng1544   (Journal Full-text)

Antigen presentation to T cells by MHC molecules is essential for adaptive immune responses. To determine the exact position of a gene affecting expression of MHC molecules, we finely mapped a previously defined rat quantitative trait locus regulating MHC class II on microglia in an advanced intercross line. We identified a small interval including the gene MHC class II transactivator (Mhc2ta) and, using a map over six inbred strains combined with gene sequencing and expression analysis, two conserved Mhc2ta haplotypes segregating with MHC class II levels. In humans, a -168A --> G polymorphism in the type III promoter of the MHC class II transactivator (MHC2TA) was associated with increased susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction, as well as lower expression of MHC2TA after stimulation of leukocytes with interferon-gamma. We conclude that polymorphisms in Mhc2ta and MHC2TA result in differential MHC molecule expression and are associated with susceptibility to common complex diseases with inflammatory components.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Experimental Autoimmune Encephalomyelitis  ISOCiita (Rattus norvegicus)1358146; 1358146 RGD 
Experimental Autoimmune Encephalomyelitis  IAGP 1358146 RGD 
multiple sclerosis susceptibilityIAGP 1358146DNA:polymorphism:promoter:-168A>GRGD 
multiple sclerosis susceptibilityISOCIITA (Homo sapiens)1358146; 1358146DNA:polymorphism:promoter:-168A>G (human)RGD 
myocardial infarction susceptibilityIAGP 1358146DNA:polymorphism:promoter:-168A>GRGD 
myocardial infarction susceptibilityISOCIITA (Homo sapiens)1358146; 1358146DNA:polymorphism:promoter:-168A>G (human)RGD 
rheumatoid arthritis susceptibilityIAGP 1358146DNA:polymorphism:promoter:-168A>GRGD 
rheumatoid arthritis susceptibilityISOCIITA (Homo sapiens)1358146; 1358146DNA:polymorphism:promoter:-168A>G (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
decreased level of surface class II molecules  IAGP 1358146compared to DA strainRGD 

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Decreased inflammatory response  IAGP 1358146DNA:polymorphism:promoter:-168A>GRGD 
Objects Annotated

Genes (Rattus norvegicus)
Ciita  (class II, major histocompatibility complex, transactivator)

Genes (Mus musculus)
Ciita  (class II transactivator)

Genes (Homo sapiens)
CIITA  (class II major histocompatibility complex transactivator)

Strains
PVG.1AV1  (Piebald-Virol-Glaxo)

Objects referenced in this article
QTL Neuinf2 Neuroinflammation QTL 2 Rattus norvegicus
QTL Neuinf3 Neuroinflammation QTL 3 Rattus norvegicus

Additional Information