1,7-dimethyluric acid to paraxanthine

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

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):
-0.161
Position:
41353107
SE (Ratio):
0.010
Effect Allele:
T
Z-score (Ratio):
-15.967
Reference Allele:
C
-log10(P):
-130.469
MAF:
0.424
Beta (Num):
-0.050
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.111
SE (Den):
0.016
No CNV overlap
rQTL cluster:
244
Reaction Distance:
1.0
Closest Genes:
CTC-490E21.12 CYP2A6 CYP2A7 EGLN2 RAB4B-EGLN2

LLM Analysis

Numerator Metabolite Explanation:

Caffeine metabolism

Denominator Metabolite Explanation:

Caffeine metabolism

Ratio Explanation:

The ratio of 1,7-dimethyluric acid to its precursor paraxanthine reflects the activity of caffeine metabolism, partly catalyzed by the CYP2A6 enzyme.4[1], 5[2], 6[3], 7[4]

Ratio Evidence:

canonical reaction catalyzed by the enzyme

Gene Ratio Phenotype Relationship:

Genetic variants in CYP2A6 alter enzyme activity, impacting the metabolism of tobacco carcinogens and caffeine.1[1], 7[2], 3[3] This altered metabolism is associated with smoking intensity and risk for lung diseases, including lung cancer and emphysema.8[4], 9[5], 10[6]

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