3b-hydroxy-5-cholenoic acid to 5alpha-androstan-3beta,17alpha-diol disulfate

Numerator 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

Denominator Metabolite

Structure of 5alpha-androstan-3beta,17alpha-diol disulfate
Metabolite Accession: GCST90199852
Name: 5alpha-androstan-3beta,17alpha-diol disulfate
Hmdb Id: HMDB0094682
Super Pathway: NA
Sub Pathway: NA
Inchikey: JHFAETDERBWUOO

Associated Genomic Regions

Region: rs10426201

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
19
Beta (Ratio):
0.338
Position:
48384749
SE (Ratio):
0.030
Effect Allele:
G
Z-score (Ratio):
11.138
Reference Allele:
A
-log10(P):
-64.670
MAF:
0.168
Beta (Num):
0.161
Novel Locus:
No
SE (Num):
0.023
Beta (Den):
-0.177
SE (Den):
0.022
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 BSPH1

LLM Analysis

Numerator Metabolite Explanation:

Primary bile acid biosynthesis.3[1], 4[2]

Denominator Metabolite Explanation:

Androgen and estrogen metabolism.5[1]

Ratio Explanation:

The ratio reflects SULT2A1 activity; a higher ratio indicates lower sulfation of steroid metabolites, like the denominator, relative to bile acid (numerator) levels.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in SULT2A1 are associated with cholelithiasis.6[1], 7[2] Reduced SULT2A1 function can alter bile acid and steroid metabolism, which is a mechanism for gallstone formation, linking the gene to the phenotype of cholelithiasis.8[3], 7[4], 9[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