1,7-dimethyluric acid to 1-methylxanthine

Numerator Metabolite

Structure of 1,7-dimethylurate
Metabolite Accession: GCST90199756
Name: 1,7-dimethylurate
Hmdb Id: HMDB0011103
Super Pathway: NA
Sub Pathway: NA
Inchikey: NOFNCLGCUJJPKU

Denominator Metabolite

Structure of 1-methylxanthine
Metabolite Accession: GCST90199763
Name: 1-methylxanthine
Hmdb Id: HMDB0010738
Super Pathway: NA
Sub Pathway: NA
Inchikey: MVOYJPOZRLFTCP

Associated Genomic Regions

Region: rs2472297

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Clumped rQTL variant

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SNP Summary

Chr:
15
Beta (Ratio):
-0.127
Position:
75027880
SE (Ratio):
0.012
Effect Allele:
T
Z-score (Ratio):
-10.351
Reference Allele:
C
-log10(P):
-56.141
MAF:
0.250
Beta (Num):
0.022
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
0.149
SE (Den):
0.018
No CNV overlap
rQTL cluster:
216
Reaction Distance:
2.0
Closest Genes:
CYP1A1 CYP1A2 EDC3 CSK LMAN1L

Region: rs1495743

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Clumped rQTL variant

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SNP Summary

Chr:
8
Beta (Ratio):
0.400
Position:
18273300
SE (Ratio):
0.013
Effect Allele:
G
Z-score (Ratio):
31.549
Reference Allele:
C
-log10(P):
-501.349
MAF:
0.225
Beta (Num):
0.032
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
-0.368
SE (Den):
0.019
No CNV overlap
rQTL cluster:
85
Reaction Distance:
2.0
Closest Genes:
NAT2 PSD3 NAT1 ASAH1 PCM1

LLM Analysis

Numerator Metabolite Explanation:

Caffeine metabolism7[1], 8[2], 9[3], 10[4]

Denominator Metabolite Explanation:

Caffeine metabolism11[1], 12[2], 13[3], 14[4], 15[5]

Ratio Explanation:

The ratio of 1,7-dimethyluric acid to 1-methylxanthine reflects the activity of enzymes like CYP1A2 and NATs in the breakdown of caffeine metabolites.16[1], 17[2], 18[3], 19[4]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered NAT1/CYP1A2 activity, reflected by the metabolite ratio, may influence the risk of bladder cancer and gout through modified metabolism of caffeine and other xenobiotics.20[1], 21[2], 22[3], 23[4], 24[5], 25[6]

Phenotype Driver:

Gene-centric:NAT1

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