5alpha-pregnan-3beta,20alpha-diol monosulfate (2) to androsterone sulfate

Numerator Metabolite

Metabolite Accession: GCST90199854
Name: 5alpha-pregnan-3beta,20alpha-diol monosulfate (2)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of androsterone sulfate
Metabolite Accession: GCST90200674
Name: androsterone sulfate
Hmdb Id: HMDB0002759
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZMITXKRGXGRMKS

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):
0.294
Position:
48374950
SE (Ratio):
0.024
Effect Allele:
A
Z-score (Ratio):
12.345
Reference Allele:
C
-log10(P):
-78.946
MAF:
0.162
Beta (Num):
0.163
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
-0.130
SE (Den):
0.020
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis, Progesterone metabolism

Denominator Metabolite Explanation:

Androgen metabolism, Steroid metabolism

Ratio Explanation:

The ratio reflects SULT2A1 activity; lower ratios suggest reduced sulfation of pregnanediol relative to androsterone, potentially due to altered enzyme function or substrate availability.4[1], 5[2], 6[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced SULT2A1 activity, indicated by a lower ratio, impairs bile acid sulfation and detoxification, leading to cholestasis, a key factor in cholelithiasis development.2[1], 7[2], 8[3], 9[4], 10[5], 11[6], 12[7]

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