5-acetylamino-6-amino-3-methyluracil to 1,3-dimethylurate

Numerator Metabolite

Structure of 5-acetylamino-6-amino-3-methyluracil
Metabolite Accession: GCST90199760
Name: 5-acetylamino-6-amino-3-methyluracil
Hmdb Id: HMDB0004400
Super Pathway: NA
Sub Pathway: NA
Inchikey: POQOTWQIYYNXAT

Denominator Metabolite

Structure of 1,3-dimethylurate
Metabolite Accession: GCST90199694
Name: 1,3-dimethylurate
Hmdb Id: HMDB0001857
Super Pathway: NA
Sub Pathway: NA
Inchikey: OTSBKHHWSQYEHK

Associated Genomic Regions

Region: rs1495743

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

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SNP Summary

Chr:
8
Beta (Ratio):
0.393
Position:
18273300
SE (Ratio):
0.017
Effect Allele:
G
Z-score (Ratio):
23.636
Reference Allele:
C
-log10(P):
-282.729
MAF:
0.227
Beta (Num):
0.384
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.010
SE (Den):
0.020
No CNV overlap
rQTL cluster:
85
Reaction Distance:
NA
Closest Genes:
NAT2 PSD3 NAT1 ASAH1 PCM1

LLM Analysis

Numerator Metabolite Explanation:

Caffeine metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Caffeine metabolism.7[1], 8[2], 9[3], 10[4]

Ratio Explanation:

This ratio of two caffeine metabolites likely reflects the activity of the NAT2 enzyme, which is involved in the formation of the numerator.11[1], 12[2], 13[3], 4[4]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

NAT2 "slow acetylator" genotypes are associated with reduced detoxification of aromatic amine carcinogens found in tobacco smoke, increasing the risk of bladder cancer.14[1], 2[2], 15[3], 16[4], 17[5], 18[6]

Phenotype Driver:

Gene-centric:NAT2

Downloads

Download the full rQTL summary statistics file for this metabolite ratio. Data contains the loci listed here. For each SNP (chromosome, effect_allele, reference_allele, pos_name, position) these columns contain the summary statistics of the ratio (beta, pgain, pval, se, z), the numerator metabolite (beta_1, pval_1, n_iids_1, effect_allele_frequency_1, se_1, z_1) and the denominator metabolite (beta_2, pval_2, n_iids_2, effect_allele_frequency_2, se_2, z_2)

Download rQTL Data