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rs2240017

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) not observed (too rare)
(C;G) respond better to steroids
(G;G) 0 common
ReferenceGRCh38 38.1/141
Chromosome17
Position47733553
GeneTBX21
is asnp
is mentioned by
dbSNPrs2240017
ebirs2240017
HLIrs2240017
Exacrs2240017
Varsomers2240017
Maprs2240017
PheGenIrs2240017
hapmaprs2240017
1000 genomesrs2240017
hgdprs2240017
ensemblrs2240017
gopubmedrs2240017
geneviewrs2240017
scholarrs2240017
googlers2240017
pharmgkbrs2240017
gwascentralrs2240017
openSNPrs2240017
23andMers2240017
23andMe allrs2240017
SNP Nexus

SNPshotrs2240017
SNPdbers2240017
MSV3drs2240017
GWAS Ctlgrs2240017
GMAF0.04316
Max Magnitude0
? (C;C) (C;G) (G;G) 28
This SNP encodes a variation in the 33rd amino acid of the protein encoded by the TBX21 gene. Although 95% or so of all Caucasians carry two copies of the rs2240017(G) allele, as oriented in dbSNP orientation, and are thus rs2240017(G;G) homozygotes, a few individuals are rs2240017(C;G) heterozygotes. These heterozgotes are reported to improve better over time in response to corticosteroid treatment for asthma than the rs2240017(G;G) homozygotes. So far, studies have not linked, however, this SNP to any change in the overall risk of asthma itself. [PMID 15604153OA-icon.png]

Although the effect observed was strong, in that treating rs2240017(C;G) heterozygotes ultimately (over 4 years) yields average airway responsiveness in the normal range (i.e. in the same range as for nonasthmatics), the authors point out that the relatively small number of heterozygous children studied indicates that a larger study is warranted to ensure reproducibility. [PMID 15604153OA-icon.png]

It is also unknown whether the effect is limited to the particular corticosteroid used (budesonide, aka Rhinocort) in this study. This is thought to be unlikely, though, given the general nature of the drug.

Neighborrs2074190
Distance291
[PMID 18045485OA-icon.png] The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes.