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

rs2052129

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3 related to Histamine intolerance
(C;C) 0 common/normal
Make rs2052129(A;C)
ReferenceGRCh38 38.1/142
Chromosome7
Position150851884
GeneAOC1, LOC105375567
is asnp
is mentioned by
dbSNPrs2052129
dbSNP (old)rs2052129
ClinGenrs2052129
ebirs2052129
HLIrs2052129
Exacrs2052129
Gnomadrs2052129
Varsomers2052129
LitVarrs2052129
Maprs2052129
PheGenIrs2052129
Biobankrs2052129
1000 genomesrs2052129
hgdprs2052129
ensemblrs2052129
gopubmedrs2052129
geneviewrs2052129
scholarrs2052129
googlers2052129
pharmgkbrs2052129
gwascentralrs2052129
openSNPrs2052129
23andMers2052129
23andMe allrs2052129
SNPshotrs2052129
SNPdbers2052129
MSV3drs2052129
GWAS Ctlgrs2052129
GMAF0.1947
Max Magnitude3
? (A;A) (A;C) (C;C) 28

rs2052129, also known as (G4586T), is a variant in the AOC1 diamine oxidase gene on chromosome 7.


The minor allele, rs2052129(A), has been reported in a 2011 study to be associated with decreased transcriptional activity, at least when measured in homozygotes (for the minor allele) compared to major allele homozygotes. However, the same study describing the decreased gene activity reported that this variant was not associated with histamine intolerance (HIT), suggesting that the variant may be necessary but not sufficient (on its own) to lead to actual HIT.[PMID 21488903]

No association between the promoter SNP rs2052129 and the risk of developing NSAID hypersensitivity was seen in a 2012 study of 442 Caucasian patients.[PMID 23152756OA-icon.png]

A different 2012 study of ~300 patients with selective NSAID hypersensitivity found no association for rs2052129; however, they reported that logistic regression analyses suggested that rs2052129(C;C) homozygotes were related to selective hypersensitivity to ibuprofen. [PMID 27746735OA-icon.png]