2,6-dihydroxybenzoic acid to carboxyethyl-gaba

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 carboxyethyl-gaba
Metabolite Accession: GCST90199918
Name: carboxyethyl-gaba
Hmdb Id: HMDB0002201
Super Pathway: NA
Sub Pathway: NA
Inchikey: SRGQUICKDUQCKO

Associated Genomic Regions

Region: rs1165196

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):
-0.227
Position:
25813150
SE (Ratio):
0.019
Effect Allele:
G
Z-score (Ratio):
-11.869
Reference Allele:
A
-log10(P):
-73.145
MAF:
0.444
Beta (Num):
-0.090
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.136
SE (Den):
0.015
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A1 SLC17A3 SLC17A4 HIST1H2BA HIST1H2AA

LLM Analysis

Numerator Metabolite Explanation:

Salicylate Metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Polyamine Metabolism.7[1], 8[2]

Ratio Explanation:

A change in the ratio of 2,6-dihydroxybenzoic acid to carboxyethyl-gaba could reflect altered transport activity of SLC17A4 for one or both of these anions.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

The *SLC17A4* variant likely alters transport of various anions, including urate, impacting serum levels. This systemic effect on solute transport could explain the diverse associations with renal (creatinine, uric acid), hematological (MCH, Hb), and metabolic (HbA1c) phenotypes.1[1], 9[2], 10[3], 11[4], 12[5]

Phenotype Driver:

Gene-centric:[SLC17A4]

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