glycoursodeoxycholic acid sulfate (1) to 3b-hydroxy-5-cholenoic acid

Numerator Metabolite

Structure of glycoursodeoxycholic acid sulfate (1)
Metabolite Accession: GCST90200221
Name: glycoursodeoxycholic acid sulfate (1)
Hmdb Id: HMDB0002409
Super Pathway: NA
Sub Pathway: NA
Inchikey: DKXXSIJHWWVNMO

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: rs62129966

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:
19
Beta (Ratio):
-0.350
Position:
48374950
SE (Ratio):
0.034
Effect Allele:
A
Z-score (Ratio):
-10.174
Reference Allele:
C
-log10(P):
-54.306
MAF:
0.150
Beta (Num):
-0.188
Novel Locus:
No
SE (Num):
0.024
Beta (Den):
0.161
SE (Den):
0.023
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Bile acid conjugation

Denominator Metabolite Explanation:

Bile acid synthesis

Ratio Explanation:

The ratio reflects SULT2A1 activity, where higher values indicate increased sulfation of glycoursodeoxycholic acid relative to the synthesis of 3b-hydroxy-5-cholenoic acid.1[1], 4[2], 5[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced SULT2A1 activity is associated with decreased bile acid sulfation and detoxification, which is a known risk factor for cholestasis and the formation of gallstones (cholelithiasis).6[1], 7[2], 8[3]

Phenotype Driver:

Gene-centric:SULT2A1

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