acisoga to 3-methylxanthine

Numerator Metabolite

Structure of acisoga
Metabolite Accession: GCST90199962
Name: acisoga
Hmdb Id: HMDB0061384
Super Pathway: NA
Sub Pathway: NA
Inchikey: OAUYENAPBFTAQT

Denominator Metabolite

Structure of 3-methylxanthine
Metabolite Accession: GCST90199699
Name: 3-methylxanthine
Hmdb Id: HMDB0001886
Super Pathway: NA
Sub Pathway: NA
Inchikey: GMSNIKWWOQHZGF

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):
0.200
Position:
41353107
SE (Ratio):
0.022
Effect Allele:
T
Z-score (Ratio):
9.154
Reference Allele:
C
-log10(P):
-44.346
MAF:
0.428
Beta (Num):
0.097
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.103
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:

Polyamine catabolism

Denominator Metabolite Explanation:

Xanthine/Caffeine metabolism

Ratio Explanation:

The ratio of acisoga (a polyamine catabolite) to 3-methylxanthine (a caffeine metabolite) may reflect altered metabolic activity influenced by CYP2A6.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

CYP2A6 genetic variants alter enzyme activity, which is linked to risk for emphysema and lung cancer, likely by modifying smoking behavior and the metabolism of tobacco carcinogens.1[1], 5[2], 3[3], 4[4] The association with liver enzymes (ALT, ALP) is consistent with CYP2A6's primary expression in the liver.6[5], 7[6], 8[7]

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