glycocholenate sulfate* to n-acetylthreonine

Numerator Metabolite

Structure of glycocholenate sulfate*
Metabolite Accession: GCST90199841
Name: glycocholenate sulfate*
Hmdb Id: HMDB0242178
Super Pathway: NA
Sub Pathway: NA
Inchikey: OTUHTIDAACSDJD

Denominator Metabolite

Structure of n-acetylthreonine
Metabolite Accession: GCST90199726
Name: n-acetylthreonine
Hmdb Id: HMDB0062557
Super Pathway: NA
Sub Pathway: NA
Inchikey: PEDXUVCGOLSNLQ

Associated Genomic Regions

Region: rs1047891

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:
2
Beta (Ratio):
0.179
Position:
211540507
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
8.149
Reference Allele:
C
-log10(P):
-35.538
MAF:
0.310
Beta (Num):
0.092
Novel Locus:
Yes ✔️
SE (Num):
0.017
Beta (Den):
-0.087
SE (Den):
0.016
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Bile acid biosynthesis and sulfation.5[1], 6[2]

Denominator Metabolite Explanation:

Threonine and amino acid metabolism.7[1], 8[2]

Ratio Explanation:

This ratio may reflect liver dysfunction; impaired CPS1 activity (urea cycle) could alter liver metabolism, affecting both bile acid (glycocholenate sulfate) and amino acid (N-acetylthreonine) handling.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired CPS1 function disrupts the liver's urea cycle, leading to hyperammonemia, which can cause both liver dysfunction (cholelithiasis) and subsequent kidney disease, pathological states reflected by the altered metabolite ratio.9[1], 10[2], 11[3], 12[4]

Phenotype Driver:

Gene-centric:CPS1

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