Have questions? Visit https://www.reddit.com/r/SNPedia

rs12212067

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 1.5 Lower inflammatory response
(G;T) 1.5 Lower inflammatory response
(T;T) 1.5 Greater inflammatory response
ReferenceGRCh38 38.1/141
Chromosome6
Position108659993
GeneFOXO3
is asnp
is mentioned by
dbSNPrs12212067
ebirs12212067
HLIrs12212067
Exacrs12212067
Varsomers12212067
Maprs12212067
PheGenIrs12212067
hapmaprs12212067
1000 genomesrs12212067
hgdprs12212067
ensemblrs12212067
gopubmedrs12212067
geneviewrs12212067
scholarrs12212067
googlers12212067
pharmgkbrs12212067
gwascentralrs12212067
openSNPrs12212067
23andMers12212067
23andMe allrs12212067
SNP Nexus

SNPshotrs12212067
SNPdbers12212067
MSV3drs12212067
GWAS Ctlgrs12212067
GMAF0.1336
Max Magnitude1.5
rs12212067 is a noncoding SNP in the FOXO3A gene. This gene encodes the FOXO3 protein, a member of the forkhead box O family of transcription factors. These proteins are expressed in many cell types, with roles in cell-cycle control, metabolism, regulatory T cell development and apoptosis. It's role in cytokine production appears to be the key factor in this SNP's association with disease prognosis (but, interestingly, no role in disease susceptibility has been found to date).

rs12212067(G), the minor allele, is connected to the downregulation of TNF and several other proinflammatory cytokines in response to various antigens, and, the upregulation of IL10, a cytokine associated with anti-inflammatory effects. As elucidated in the cited study, this appears to explain the better outcomes for rs12212067(G) carriers of treatment for two auto-immune disorders, rheumatoid arthritis and Crohn's disease. As might be predicted for an infectious disease relying on an upregulated inflammatory response (which isn't happening as much with these carriers), this also leads to worse outcomes for carriers afflicted with malaria.[PMID 24035192OA-icon.png];[PMID 24074853]

More recently, a different group of researchers have reported that, at least in the patients they studied, rs12212067 is a far weaker predictor of the clinical outcome for Crohn's disease patients than is rs2066847, a SNP in the NOD2 gene.[PMID 25365249OA-icon.png]

? (G;G) (G;T) (T;T) 28


[PMID 26223437] FOXO3 rs12212067: T > G Association with Active Tuberculosis in Han Chinese Population