3b-hydroxy-5-cholenoic acid to 5alpha-androstan-3alpha,17beta-diol monosulfate (1)

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

Metabolite Accession: GCST90199858
Name: 5alpha-androstan-3alpha,17beta-diol monosulfate (1)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs62129966

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:
48374950
SE (Ratio):
0.032
Effect Allele:
A
Z-score (Ratio):
10.683
Reference Allele:
C
-log10(P):
-59.666
MAF:
0.165
Beta (Num):
0.161
Novel Locus:
No
SE (Num):
0.023
Beta (Den):
-0.177
SE (Den):
0.021
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Primary bile acid biosynthesis4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Androgen and steroid metabolism7[1], 8[2], 9[3]

Ratio Explanation:

A higher ratio suggests reduced SULT2A1 activity, indicating decreased sulfation of androgens and potentially altered bile acid metabolism.10[1], 11[2], 12[3], 13[4]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced SULT2A1 activity is associated with altered bile acid and steroid metabolism, increasing the risk of cholelithiasis (gallstones).11[1], 14[2], 15[3], 16[4] The ratio reflects this altered metabolic state linked to gallstone formation and cholecystitis.

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