taurochenodeoxycholic acid 3-sulfate to 3b-hydroxy-5-cholenoic acid

Numerator Metabolite

Structure of taurochenodeoxycholic acid 3-sulfate
Metabolite Accession: GCST90200242
Name: taurochenodeoxycholic acid 3-sulfate
Hmdb Id: HMDB0002486
Super Pathway: NA
Sub Pathway: NA
Inchikey: IJHJZQKOSUFQCX

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):
-0.349
Position:
48374950
SE (Ratio):
0.034
Effect Allele:
A
Z-score (Ratio):
-10.218
Reference Allele:
C
-log10(P):
-54.765
MAF:
0.155
Beta (Num):
-0.188
Novel Locus:
No
SE (Num):
0.023
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 sulfation

Denominator Metabolite Explanation:

Alternative bile acid biosynthesis

Ratio Explanation:

The ratio reflects SULT2A1 activity, which is involved in the sulfation of bile acids, against the production of an alternative bile acid precursor.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in SULT2A1 alter its enzymatic activity, impacting the composition of bile acids. This dysregulation, reflected by the ratio, contributes to gallstone formation (cholelithiasis) by creating lithogenic bile and can lead to associated inflammatory conditions like cholecystitis.3[1], 4[2], 5[3], 6[4], 7[5]

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