3-methylxanthine to 3,7-dimethylurate

Numerator Metabolite

Structure of 3-methylxanthine
Metabolite Accession: GCST90199699
Name: 3-methylxanthine
Hmdb Id: HMDB0001886
Super Pathway: NA
Sub Pathway: NA
Inchikey: GMSNIKWWOQHZGF

Denominator Metabolite

Structure of 3,7-dimethylurate
Metabolite Accession: GCST90199755
Name: 3,7-dimethylurate
Hmdb Id: HMDB0001982
Super Pathway: NA
Sub Pathway: NA
Inchikey: HMLZLHKHNBLLJD

Associated Genomic Regions

Region: rs56113850

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:
19
Beta (Ratio):
-0.179
Position:
41353107
SE (Ratio):
0.015
Effect Allele:
T
Z-score (Ratio):
-12.327
Reference Allele:
C
-log10(P):
-78.722
MAF:
0.423
Beta (Num):
-0.103
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.076
SE (Den):
0.017
No CNV overlap
rQTL cluster:
244
Reaction Distance:
NA
Closest Genes:
CTC-490E21.12 CYP2A6 CYP2A7 EGLN2 RAB4B-EGLN2

LLM Analysis

Numerator Metabolite Explanation:

Caffeine metabolism

Denominator Metabolite Explanation:

Caffeine metabolism

Ratio Explanation:

This ratio reflects caffeine metabolism. 3-methylxanthine is a metabolite, and 3,7-dimethylurate is derived from theobromine, another caffeine metabolite, with CYP2A6 involved in downstream steps.4[1], 5[2], 6[3], 7[4]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Slower CYP2A6 activity, indicated by altered metabolite ratios, is linked to reduced smoking intensity and a lower risk of smoking-related lung diseases like cancer and emphysema.8[1], 9[2], 2[3], 10[4] This enzyme's function also affects liver enzymes ALT and ALP.11[5], 12[6], 13[7]

Phenotype Driver:

Gene-centric:CYP2A6

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