rs2052129
A SNP in the AOC1 gene on chromosome 7. Its most notable genotype is T;T: related to Histamine intolerance
- Gene
- AOC1
- Location
- Chr 7150,851,884 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 19%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs2052129 on the minus strand: (A;A), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageT;T 4% G;G 68%
- European ancestry (Utah)T;T 6% G;G 53%
- Han Chinese (Beijing)T;T <1% G;G 74%
- Japanese (Tokyo)T;T <1% G;G 83%
- Yoruba (Nigeria)T;T 8% G;G 54%
- African ancestry (Southwest US)T;T 4% G;G 49%
- Chinese (Denver)T;T <1% G;G 77%
- Gujarati IndianT;T 7% G;G 73%
- Luhya (Kenya)T;T 3% G;G 71%
- Mexican ancestry (Los Angeles)T;T 2% G;G 67%
- Maasai (Kenya)T;T 0% G;G 89%
- TuscanT;T 9% G;G 61%
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 200 words
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. No association between the promoter SNP rs2052129 and the risk of developing NSAID hypersensitivity was seen in a 2012 study of 442 Caucasian patients. 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.
T;T
There is some evidence that this SNP significantly decreases the expression of DAO, an enzyme that breaks down histamine. Making you less able to metabolize histamine, increasing the risk of histamine intolerance.
Source and license
Adapted from rs2052129 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.