metabolonic lactone sulfate to 3b-hydroxy-5-cholenoic acid

Numerator Metabolite

Metabolite Accession: GCST90200257
Name: metabolonic lactone sulfate
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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):
-0.322
Position:
48374950
SE (Ratio):
0.032
Effect Allele:
A
Z-score (Ratio):
-10.069
Reference Allele:
C
-log10(P):
-53.240
MAF:
0.161
Beta (Num):
-0.161
Novel Locus:
No
SE (Num):
0.021
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:

Steroid sulfation.1[1], 2[2]

Denominator Metabolite Explanation:

Primary bile acid biosynthesis.6[1], 7[2], 8[3], 9[4], 10[5]

Ratio Explanation:

The ratio reflects SULT2A1 activity, where lower activity may decrease sulfation of 3b-hydroxy-5-cholenoic acid, a bile acid, altering its ratio to other metabolites.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in SULT2A1 are associated with altered bile acid metabolism, which is a known risk factor for the development of cholelithiasis (gallstones).3[1], 11[2], 12[3] Altered SULT2A1 function likely disrupts bile acid homeostasis, contributing to gallstone formation.

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