n-acetylputrescine to 1-methylxanthine

Numerator Metabolite

Structure of n-acetylputrescine
Metabolite Accession: GCST90200351
Name: n-acetylputrescine
Hmdb Id: HMDB0002064
Super Pathway: NA
Sub Pathway: NA
Inchikey: KLZGKIDSEJWEDW

Denominator Metabolite

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

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):
0.960
Position:
18272377
SE (Ratio):
0.026
Effect Allele:
C
Z-score (Ratio):
37.230
Reference Allele:
T
-log10(P):
-696.879
MAF:
0.225
Beta (Num):
0.592
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
-0.368
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:

Polyamine and GABA metabolism.4[1], 5[2], 6[3], 7[4]

Denominator Metabolite Explanation:

Caffeine and xanthine metabolism.8[1], 9[2], 10[3], 11[4]

Ratio Explanation:

This ratio may reflect NAT2 enzyme activity, where slow acetylators have reduced metabolism of 1-methylxanthine, while n-acetylputrescine levels are also associated with NAT2 variants.12[1], 13[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Slow NAT2 acetylator status is a known risk factor for bladder cancer, as it impairs detoxification of carcinogens.14[1], 15[2], 16[3] The ratio, influenced by NAT2 genetic variants, reflects this detoxification capacity and is also associated with lipid metabolism disorders linked to the same genetic loci.13[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