5-acetylamino-6-amino-3-methyluracil to theophylline

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 theophylline
Metabolite Accession: GCST90199647
Name: theophylline
Hmdb Id: HMDB0001889
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZFXYFBGIUFBOJW

Associated Genomic Regions

Region: rs1495741

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):
0.386
Position:
18272881
SE (Ratio):
0.016
Effect Allele:
G
Z-score (Ratio):
24.135
Reference Allele:
A
-log10(P):
-294.667
MAF:
0.226
Beta (Num):
0.384
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.002
SE (Den):
0.019
No CNV overlap
rQTL cluster:
85
Reaction Distance:
NA
Closest Genes:
NAT2 PSD3 NAT1 ASAH1 PCM1

LLM Analysis

Numerator Metabolite Explanation:

Caffeine/Xenobiotic metabolism.6[1], 7[2]

Denominator Metabolite Explanation:

Caffeine/Xenobiotic metabolism.8[1], 9[2], 10[3], 11[4], 12[5]

Ratio Explanation:

This ratio reflects NAT2 activity, where the numerator is a downstream metabolite of the denominator, theophylline, indicating the efficiency of theophylline metabolism and subsequent acetylation.13[1], 7[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced NAT2 activity (a lower ratio) is a known risk factor for bladder cancer, as it impairs the detoxification of carcinogenic arylamines found in substances like tobacco smoke.14[1], 15[2], 16[3], 17[4], 18[5] This altered metabolism is also associated with changes in lipid profiles.

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