2,6-dihydroxybenzoic acid to 3-formylindole

Numerator Metabolite

Structure of 2,6-dihydroxybenzoic acid
Metabolite Accession: GCST90200229
Name: 2,6-dihydroxybenzoic acid
Hmdb Id: HMDB0013676
Super Pathway: NA
Sub Pathway: NA
Inchikey: AKEUNCKRJATALU

Denominator Metabolite

Structure of 3-formylindole
Metabolite Accession: GCST90200184
Name: 3-formylindole
Hmdb Id: HMDB29737
Super Pathway: NA
Sub Pathway: NA
Inchikey: OLNJUISKUQQNIM

Associated Genomic Regions

Region: rs1165169

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:
6
Beta (Ratio):
0.186
Position:
25859286
SE (Ratio):
0.022
Effect Allele:
G
Z-score (Ratio):
8.607
Reference Allele:
T
-log10(P):
-39.434
MAF:
0.249
Beta (Num):
0.104
Novel Locus:
Yes ✔️
SE (Num):
0.017
Beta (Den):
-0.083
SE (Den):
0.017
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A3 SLC17A1 SLC17A2 SLC17A4 TRIM38

LLM Analysis

Numerator Metabolite Explanation:

Salicylate metabolism, xenobiotic degradation.8[1], 9[2], 10[3]

Denominator Metabolite Explanation:

Tryptophan metabolism.11[1], 12[2], 13[3], 14[4]

Ratio Explanation:

The ratio may reflect altered renal clearance of 2,6-dihydroxybenzoic acid by the SLC17A3 transporter, relative to the production of 3-formylindole from tryptophan metabolism.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

A missense variant in `SLC17A3` alters urate transport, affecting serum uric acid levels.1[1], 7[2], 2[3] Elevated uric acid is associated with increased red blood cell count, pulse pressure, and BMI, explaining the link to these phenotypes.15[4], 16[5], 17[6], 18[7], 19[8]

Phenotype Driver:

Gene-centric:SLC17A3

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