glycocholenate sulfate* to 3b-hydroxy-5-cholenoic acid

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 3b-hydroxy-5-cholenoic acid
Metabolite Accession: GCST90199933
Name: 3b-hydroxy-5-cholenoic acid
Hmdb Id: HMDB0000308
Super Pathway: NA
Sub Pathway: NA
Inchikey: HIAJCGFYHIANNA

Associated Genomic Regions

Region: rs1047891

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:
2
Beta (Ratio):
0.189
Position:
211540507
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
8.370
Reference Allele:
C
-log10(P):
-37.394
MAF:
0.310
Beta (Num):
0.092
Novel Locus:
Yes ✔️
SE (Num):
0.017
Beta (Den):
-0.097
SE (Den):
0.018
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Bile acid conjugation and sulfation.4[1], 5[2]

Denominator Metabolite Explanation:

Primary bile acid biosynthesis.6[1], 7[2], 8[3]

Ratio Explanation:

This ratio compares an early bile acid precursor (3b-hydroxy-5-cholenoic acid) to a downstream modified product, reflecting bile acid metabolism efficiency; CPS1 is not directly involved.6[1], 7[2], 4[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Defective CPS1 can impair the urea cycle, leading to liver dysfunction.9[1] This systemic issue likely disrupts hepatic bile acid metabolism, altering the ratio and contributing to the formation of gallstones (cholelithiasis), a consistently associated phenotype.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