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rs3087456

From SNPedia

Orientationplus
Stabilizedplus
Make rs3087456(A;A)
Make rs3087456(A;G)
Make rs3087456(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position10877045
GeneCIITA
is asnp
is mentioned by
dbSNPrs3087456
ebirs3087456
HLIrs3087456
Exacrs3087456
Varsomers3087456
Maprs3087456
PheGenIrs3087456
hapmaprs3087456
1000 genomesrs3087456
hgdprs3087456
ensemblrs3087456
gopubmedrs3087456
geneviewrs3087456
scholarrs3087456
googlers3087456
pharmgkbrs3087456
gwascentralrs3087456
openSNPrs3087456
23andMers3087456
23andMe allrs3087456
SNP Nexus

SNPshotrs3087456
SNPdbers3087456
MSV3drs3087456
GWAS Ctlgrs3087456
GMAF0.4027
Max Magnitude
This SNP has been linked to increased risk of adrenal insufficiency

However. there is mixed information regarding several other autoimmune diseases in a german population [1]

Promoter polymorphism rs3087456 in the MHC class II transactivator gene is not associated with susceptibility for selected autoimmune diseases in German patient groups.

[PMID 19605748] An evaluation of 4,000 UK RA patients did not show any risk associated with this SNP.

[PMID 20942939OA-icon.png] A study of a Swedish cohort of 446 myasthenia gravis (MG) patients and 1866 controls found no significant association of the SNP with MG, either in the patient group as a whole or in any clinical subgroup.

OMIM600005
DescRHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO
Variant0007
Relatedalso


[PMID 19317741] Autoimmune disease association signals in CIITA and KIAA0350 are not involved in celiac disease susceptibility


[PMID 20230522] Major histocompatibility complex class II transactivator gene polymorphism: associations with Löfgren's syndrome


[PMID 22272574] Influence of MHCIITA rs3087456 and rs4774 polymorphisms in the susceptibility to cardiovascular disease of patients with rheumatoid arthritis


[PMID 22461888OA-icon.png] Interaction Analysis between HLA-DRB1 Shared Epitope Alleles and MHC Class II Transactivator CIITA Gene with Regard to Risk of Rheumatoid Arthritis


[PMID 22513452] CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations


[PMID 16318629OA-icon.png] On the genetic involvement of apoptosis-related genes in Crohn's disease as revealed by an extended association screen using 245 markers: no evidence for new predisposing factors.


[PMID 16920747] MHC2TA promoter polymorphism (-168*G/A, rs3087456) is not associated with susceptibility to rheumatoid arthritis in British Caucasian rheumatoid arthritis patients.


[PMID 17012290OA-icon.png] Role of the MHC2TA gene in autoimmune diseases.


[PMID 17075826] Investigation of the MHC2TA gene, associated with rheumatoid arthritis in a Swedish population, in a UK rheumatoid arthritis cohort.


[PMID 17678724] Environment-gene interaction in multiple sclerosis: human herpesvirus 6 and MHC2TA.


[PMID 17711409] A polymorphic variant in the MHC2TA gene is not associated with systemic lupus erythematosus.


[PMID 17875550OA-icon.png] The MHC2TA -168A/G polymorphism and risk for rheumatoid arthritis: a meta-analysis of 6861 patients and 9270 controls reveals no evidence for association.


[PMID 19063739OA-icon.png] Genomic NGFB variation and multiple sclerosis in a case control study.


[PMID 19221398] Chromosomal region 16p13: further evidence of increased predisposition to immune diseases.


[PMID 20211854OA-icon.png] CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis.


[PMID 21962857] Herpesvirus active replication in multiple sclerosis a genetic control?


[PMID 23133532OA-icon.png] Polymorphisms in the Inflammatory Genes CIITA, CLEC16A and IFNG Influence BMD, Bone Loss and Fracture in Elderly Women


[PMID 23052709] Age-dependent variation of genotypes in MHC II transactivator gene (CIITA) in controls and association to type 1 diabetes


[PMID 23777927] Both qualitative and quantitative genetic variation of MHC class II molecules may influence susceptibility to autoimmune diseases: the case of endemic pemphigus foliaceus.