3-methylxanthine to 6-hydroxyindole sulfate

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 6-hydroxyindole sulfate
Metabolite Accession: GCST90200002
Name: 6-hydroxyindole sulfate
Hmdb Id: HMDB0000682
Super Pathway: NA
Sub Pathway: NA
Inchikey: BXFFHSIDQOFMLE

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):
-0.213
Position:
41353107
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
-10.288
Reference Allele:
C
-log10(P):
-55.486
MAF:
0.423
Beta (Num):
-0.103
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.110
SE (Den):
0.015
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, Purine metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Tryptophan metabolism, Indole metabolism.6[1], 7[2]

Ratio Explanation:

The ratio of 3-methylxanthine (a caffeine metabolite) to 6-hydroxyindole sulfate (a tryptophan metabolite) may reflect CYP2A6 metabolic activity.6[1], 8[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in CYP2A6 alter its metabolic activity, influencing smoking behaviors and the activation of tobacco carcinogens.1[1], 9[2], 10[3] This altered activity is a risk factor for smoking-related diseases like emphysema and lung cancer.1[4], 11[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