1-methylxanthine to n-acetylglutamine

Numerator Metabolite

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

Denominator Metabolite

Structure of n-acetylglutamine
Metabolite Accession: GCST90200676
Name: n-acetylglutamine
Hmdb Id: HMDB0006029
Super Pathway: NA
Sub Pathway: NA
Inchikey: KSMRODHGGIIXDV

Associated Genomic Regions

Region: rs1495743

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:
8
Beta (Ratio):
-0.544
Position:
18273300
SE (Ratio):
0.026
Effect Allele:
G
Z-score (Ratio):
-21.150
Reference Allele:
C
-log10(P):
-226.944
MAF:
0.223
Beta (Num):
-0.368
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
0.176
SE (Den):
0.018
No CNV overlap
rQTL cluster:
85
Reaction Distance:
NA
Closest Genes:
NAT2 PSD3 NAT1 ASAH1 PCM1

LLM Analysis

Numerator Metabolite Explanation:

Caffeine metabolism, Purine metabolism4[1], 5[2]

Denominator Metabolite Explanation:

Amino acid metabolism, Acetylation6[1], 7[2], 8[3]

Ratio Explanation:

The ratio may reflect NAT2 acetylator status, which influences the metabolism of xenobiotics like caffeine derivatives and the availability of acetyl-CoA.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Altered NAT2 activity, reflected in the ratio, impacts the metabolism of carcinogens, which is a known risk factor for bladder cancer.9[1], 10[2], 11[3] NAT2 is also implicated in lipid metabolism and insulin sensitivity, potentially linking it to hypercholesterolemia and type 2 diabetes.12[4], 13[5], 14[6], 15[7]

Phenotype Driver:

Gene-centric:NAT2

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