hydroxy-cmpf* to n-acetylhistidine

Numerator Metabolite

Metabolite Accession: GCST90200154
Name: hydroxy-cmpf*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of n-acetylhistidine
Metabolite Accession: GCST90199735
Name: n-acetylhistidine
Hmdb Id: HMDB0032055
Super Pathway: NA
Sub Pathway: NA
Inchikey: KBOJOGQFRVVWBH

Associated Genomic Regions

Region: rs1177442

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
6
Beta (Ratio):
0.202
Position:
25809069
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
9.051
Reference Allele:
G
-log10(P):
-43.398
MAF:
0.445
Beta (Num):
0.110
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.092
SE (Den):
0.016
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A1 SLC17A3 SLC17A4 HIST1H2BA HIST1H2AA

LLM Analysis

Numerator Metabolite Explanation:

Furan fatty acid metabolism.5[1], 6[2]

Denominator Metabolite Explanation:

Histidine metabolism, protein degradation.7[1], 8[2], 9[3]

Ratio Explanation:

The ratio likely reflects altered renal and intestinal clearance, as SLC17A4 transports urate and other anions, while both metabolites are uremic toxins accumulating in kidney disease.1[1], 5[2], 10[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

The SLC17A4 missense variant potentially alters intestinal and renal handling of anions. This altered transport function likely contributes to the observed phenotypes of altered serum creatinine, uric acid, and hematological parameters, which are all strongly linked to kidney function and purine metabolism.11[1], 1[2], 12[3]

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