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

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 paraxanthine
Metabolite Accession: GCST90199654
Name: paraxanthine
Hmdb Id: HMDB0001860
Super Pathway: NA
Sub Pathway: NA
Inchikey: QUNWUDVFRNGTCO

Associated Genomic Regions

Region: rs56113850

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.109
Position:
41353107
SE (Ratio):
0.012
Effect Allele:
T
Z-score (Ratio):
-9.195
Reference Allele:
C
-log10(P):
-44.734
MAF:
0.423
Beta (Num):
0.003
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.111
SE (Den):
0.016
No CNV overlap
rQTL cluster:
244
Reaction Distance:
NA
Closest Genes:
CTC-490E21.12 CYP2A6 CYP2A7 EGLN2 RAB4B-EGLN2

Region: rs1495743

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Clumped rQTL variant

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SNP Summary

Chr:
8
Beta (Ratio):
0.378
Position:
18273300
SE (Ratio):
0.014
Effect Allele:
G
Z-score (Ratio):
27.051
Reference Allele:
C
-log10(P):
-369.394
MAF:
0.227
Beta (Num):
0.384
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
0.006
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 metabolism

Denominator Metabolite Explanation:

Caffeine metabolism

Ratio Explanation:

The ratio of 5-acetylamino-6-amino-3-methyluracil to paraxanthine reflects the activity of the NAT2 enzyme, a key component in the metabolic pathway of caffeine.4[1], 5[2], 6[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Slow acetylator status, determined by NAT2 polymorphisms and indicated by the metabolite ratio, is associated with an increased risk of bladder cancer, particularly in smokers.7[1], 8[2], 9[3], 10[4] This suggests that impaired detoxification of carcinogens by NAT2 contributes to tumorigenesis.11[5], 12[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