4-acetamidobutanoate to 1-methylxanthine

Numerator Metabolite

Structure of 4-acetamidobutanoate
Metabolite Accession: GCST90200311
Name: 4-acetamidobutanoate
Hmdb Id: HMDB0003681
Super Pathway: NA
Sub Pathway: NA
Inchikey: UZTFMUBKZQVKLK

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):
0.686
Position:
18272377
SE (Ratio):
0.027
Effect Allele:
C
Z-score (Ratio):
25.727
Reference Allele:
T
-log10(P):
-334.408
MAF:
0.227
Beta (Num):
0.319
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:

Arginine and proline metabolism3[1]

Denominator Metabolite Explanation:

Caffeine metabolism4[1]

Ratio Explanation:

The ratio may reflect NAT2 enzyme activity, where altered function impacts the balance between the acetylation of aminobutanoate precursors and caffeine metabolite processing.5[1]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Slower NAT2 acetylation is linked to increased bladder cancer risk, and NAT2 variants are associated with altered lipid profiles and Type 2 diabetes risk.6[1], 7[2], 8[3] The ratio reflects NAT2 activity, providing a potential link between genetic predisposition and disease.

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