glycocholenate sulfate* to threonine

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 threonine
Metabolite Accession: GCST90200432
Name: threonine
Hmdb Id: HMDB0000167
Super Pathway: NA
Sub Pathway: NA
Inchikey: AYFVYJQAPQTCCC

Associated Genomic Regions

Region: rs1047891

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Clumped rQTL variant

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SNP Summary

Chr:
2
Beta (Ratio):
0.215
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
9.268
Reference Allele:
C
-log10(P):
-45.409
MAF:
0.310
Beta (Num):
0.092
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
-0.123
SE (Den):
0.017
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Primary bile acid biosynthesis

Denominator Metabolite Explanation:

Amino acid catabolism3[1], 4[2]

Ratio Explanation:

An elevated ratio could reflect hepatic dysfunction, where impaired CPS1 activity affects ammonia detoxification, altering bile acid (glycocholenate sulfate) and amino acid (threonine) metabolism.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered CPS1 function can impair hepatic ammonia detoxification, a process linked to intrahepatic cholelithiasis.5[1] This liver dysfunction and systemic nitrogen imbalance may also contribute to the pathogenesis of chronic kidney disease, another associated phenotype.6[2], 7[3]

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