paraxanthine to caffeine

Numerator Metabolite

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

Denominator Metabolite

Structure of caffeine
Metabolite Accession: GCST90200436
Name: caffeine
Hmdb Id: HMDB0001847
Super Pathway: NA
Sub Pathway: NA
Inchikey: RYYVLZVUVIJVGH

Associated Genomic Regions

Region: rs2472297

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:
15
Beta (Ratio):
0.102
Position:
75027880
SE (Ratio):
0.012
Effect Allele:
T
Z-score (Ratio):
8.563
Reference Allele:
C
-log10(P):
-39.048
MAF:
0.250
Beta (Num):
0.080
Novel Locus:
Yes ✔️
SE (Num):
0.018
Beta (Den):
-0.022
SE (Den):
0.018
No CNV overlap
rQTL cluster:
216
Reaction Distance:
1.0
Closest Genes:
CYP1A1 CYP1A2 EDC3 CSK LMAN1L

LLM Analysis

Numerator Metabolite Explanation:

Caffeine metabolism

Denominator Metabolite Explanation:

Caffeine metabolism

Ratio Explanation:

The paraxanthine to caffeine ratio indicates the activity of the CYP1A2 enzyme, reflecting the rate at which an individual metabolizes caffeine.4[1], 5[2], 6[3]

Ratio Evidence:

canonical reaction catalyzed by the enzyme

Gene Ratio Phenotype Relationship:

Genetic variations in CYP1A2 affect caffeine metabolism speed. Slower metabolism, indicated by a lower paraxanthine/caffeine ratio, is associated with an increased risk of kidney dysfunction, including albuminuria and hyperfiltration, particularly with high coffee intake, and may also influence gout risk through effects on uric acid.7[1], 8[2], 9[3], 10[4], 11[5], 12[6]

Phenotype Driver:

Gene-centric:CYP1A2

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