1-methylxanthine to 1,3-dimethylurate

Numerator Metabolite

Structure of 1-methylxanthine
Metabolite Accession: GCST90199763
Name: 1-methylxanthine
Hmdb Id: HMDB0010738
Super Pathway: NA
Sub Pathway: NA
Inchikey: MVOYJPOZRLFTCP

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: 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):
-0.359
Position:
18272881
SE (Ratio):
0.017
Effect Allele:
G
Z-score (Ratio):
-21.643
Reference Allele:
A
-log10(P):
-237.512
MAF:
0.222
Beta (Num):
-0.366
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.007
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]

Denominator Metabolite Explanation:

Caffeine/Theophylline metabolism.5[1], 6[2]

Ratio Explanation:

The ratio reflects caffeine metabolism, where 1-methylxanthine and 1,3-dimethylurate are downstream metabolites.7[1], 5[2], 8[3] The ratio can indicate NAT2 acetylator status.9[4], 10[5]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variants in NAT2 define slow or fast acetylator status, which alters caffeine/xenobiotic metabolism.1[1], 2[2] This altered metabolism, reflected in the metabolite ratio, is linked to bladder cancer risk, likely through differential processing of carcinogens found in tobacco smoke.1[3], 11[4], 9[5]

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