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rs4794067

From SNPedia

Aspirin Induced Asthma
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2 2.1x risk for Aspirin Induced Asthma. But possibly lower risk of lupus and intractable Graves' disease.
(C;T) 1.9 2.1x risk for Aspirin Induced Asthma. But possibly lower risk of intractible Grave's disease.
(T;T) 1.1 Lower risk of Aspirin Induced Asthma. Normal (higher) risk of lupus and intractable Grave's Disease.
ReferenceGRCh38 38.1/141
Chromosome17
Position47731462
GeneTBX21
is asnp
is mentioned by
dbSNPrs4794067
ebirs4794067
HLIrs4794067
Exacrs4794067
Varsomers4794067
Maprs4794067
PheGenIrs4794067
hapmaprs4794067
1000 genomesrs4794067
hgdprs4794067
ensemblrs4794067
gopubmedrs4794067
geneviewrs4794067
scholarrs4794067
googlers4794067
pharmgkbrs4794067
gwascentralrs4794067
openSNPrs4794067
23andMers4794067
23andMe allrs4794067
SNP Nexus

SNPshotrs4794067
SNPdbers4794067
MSV3drs4794067
GWAS Ctlgrs4794067
GMAF0.2185
Max Magnitude2
? (C;C) (C;T) (T;T) 28
rs4794067(C;C) and rs4794067(C;T) genotypes for the TBX21 gene are calculated to be at 2.15 fold higher risk (CI: 1.26-3.64) for aspirin-induced asthma (AIA) compared to rs4794067(T;T) homozygotes, based on a study of 72 patients vs 640 controls in a study of a Japanese population. [PMID 15806396]

Note that in this population, but perhaps not others, linkage disequilibrium exists between this SNP located upstream of the gene, rs4794067, and a common synonymous SNP located in the first exon, rs2074190, with a predictive accuracy of 92%.

On the other hand, rs4794067(C;C) may greatly decrease the risk of lupus if rs17250932(C;C) is also present (at least in Chinese people). [PMID 20429676] And those 2 SNPs also reduce the risk of intractable Graves' disease (at least in Japanese people). [PMID 22014209]


[PMID 25832120] TBX21-1993T/C (rs4794067) polymorphism is associated with increased risk of chronic periodontitis and increased T-bet expression in periodontal lesions, but does not significantly impact the IFN-g transcriptional level or the pattern of periodontophatic bacterial infection