1,7-dimethyluric acid to 5-acetylamino-6-amino-3-methyluracil

Numerator Metabolite

Structure of 1,7-dimethylurate
Metabolite Accession: GCST90199756
Name: 1,7-dimethylurate
Hmdb Id: HMDB0011103
Super Pathway: NA
Sub Pathway: NA
Inchikey: NOFNCLGCUJJPKU

Denominator 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

Associated Genomic Regions

Region: rs4921913

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):
-0.352
Position:
18272377
SE (Ratio):
0.012
Effect Allele:
C
Z-score (Ratio):
-28.720
Reference Allele:
T
-log10(P):
-416.008
MAF:
0.225
Beta (Num):
0.032
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
0.384
SE (Den):
0.018
No CNV overlap
rQTL cluster:
85
Reaction Distance:
NA
Closest Genes:
NAT2 PSD3 NAT1 ASAH1 PCM1

LLM Analysis

Numerator Metabolite Explanation:

Caffeine metabolism

Denominator Metabolite Explanation:

Caffeine metabolism

Ratio Explanation:

This ratio of two caffeine metabolites serves as a biomarker for N-acetyltransferase 2 (NAT2) activity.4[1], 5[2] A higher ratio suggests a slow acetylator phenotype due to lower production of the denominator.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variants in NAT2 determine its acetylator status, which is measured by this ratio.6[1] The slow acetylator phenotype is a well-established risk factor for bladder cancer and is associated with altered lipid profiles, linking the gene to the observed phenotypes.7[2], 8[3], 9[4], 10[5], 11[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