3-methylxanthine to paraxanthine

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 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):
-0.214
Position:
41353107
SE (Ratio):
0.020
Effect Allele:
T
Z-score (Ratio):
-10.961
Reference Allele:
C
-log10(P):
-62.701
MAF:
0.423
Beta (Num):
-0.103
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.111
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:

Caffeine metabolism4[1]

Denominator Metabolite Explanation:

Caffeine metabolism4[1], 5[2]

Ratio Explanation:

This ratio reflects the metabolic conversion of paraxanthine, a primary caffeine metabolite, to 3-methylxanthine, indicating the activity of N-demethylation enzymes like CYP2A6.6[1], 5[2], 7[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Faster CYP2A6 activity is associated with an increased risk of lung cancer and emphysema, likely due to enhanced metabolic activation of tobacco-related procarcinogens.3[1], 8[2], 9[3] The association with pneumonia may also relate to altered inflammatory responses influenced by smoking behaviors linked to CYP2A6 activity.

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