3-methylxanthine to theobromine

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 theobromine
Metabolite Accession: GCST90199644
Name: theobromine
Hmdb Id: HMDB0002825
Super Pathway: NA
Sub Pathway: NA
Inchikey: YAPQBXQYLJRXSA

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):
-0.209
Position:
41353107
SE (Ratio):
0.010
Effect Allele:
T
Z-score (Ratio):
-20.984
Reference Allele:
C
-log10(P):
-223.434
MAF:
0.423
Beta (Num):
-0.103
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.106
SE (Den):
0.016
No CNV overlap
rQTL cluster:
244
Reaction Distance:
NA
Closest Genes:
CTC-490E21.12 CYP2A6 CYP2A7 EGLN2 RAB4B-EGLN2

LLM Analysis

Numerator Metabolite Explanation:

Xenobiotic metabolism, purine degradation

Denominator Metabolite Explanation:

Purine metabolism, caffeine metabolism

Ratio Explanation:

The ratio reflects CYP2A6 activity, where higher values suggest faster conversion of theobromine to 3-methylxanthine, influencing xenobiotic and methylxanthine clearance.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CYP2A6 genetic variants influence smoking intensity and the metabolic activation of carcinogens in tobacco smoke, thereby affecting the risk for smoking-related diseases like emphysema and lung cancer.2[1], 3[2], 4[3], 5[4], 6[5], 7[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