5alpha-androstan-3beta,17beta-diol disulfate to 5alpha-pregnan-3beta,20alpha-diol monosulfate (2)

Numerator Metabolite

Metabolite Accession: GCST90199835
Name: 5alpha-androstan-3beta,17beta-diol disulfate
Hmdb Id: HMDB00493
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90199854
Name: 5alpha-pregnan-3beta,20alpha-diol monosulfate (2)
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

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SNP Summary

Chr:
19
Beta (Ratio):
-0.301
Position:
48374950
SE (Ratio):
0.024
Effect Allele:
A
Z-score (Ratio):
-12.674
Reference Allele:
C
-log10(P):
-83.084
MAF:
0.160
Beta (Num):
-0.137
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
0.163
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:

Androgen metabolism, steroid sulfation.3[1], 4[2]

Denominator Metabolite Explanation:

Progesterone metabolism, steroid sulfation.5[1], 6[2]

Ratio Explanation:

This ratio may reflect the activity and substrate preference of SULT2A1, comparing the sulfation of androstane- versus pregnane-based steroids.2[1], 7[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

SULT2A1 genetic variations are linked to cholelithiasis.8[1], 9[2] Altered SULT2A1 activity can modify steroid and bile acid sulfation, affecting bile composition and promoting gallstone formation, which can lead to cholecystitis and elevated alkaline phosphatase.10[3], 11[4], 12[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