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

Numerator Metabolite

Structure of 5alpha-pregnan-3beta,20alpha-diol disulfate
Metabolite Accession: GCST90199838
Name: 5alpha-pregnan-3beta,20alpha-diol disulfate
Hmdb Id: HMDB0094650
Super Pathway: NA
Sub Pathway: NA
Inchikey: LSQGWMYMIHQKSA

Denominator Metabolite

Metabolite Accession: GCST90199983
Name: 5alpha-androstan-3alpha,17beta-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):
-0.526
Position:
48374950
SE (Ratio):
0.025
Effect Allele:
A
Z-score (Ratio):
-20.839
Reference Allele:
C
-log10(P):
-220.407
MAF:
0.161
Beta (Num):
-0.277
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
0.248
SE (Den):
0.017
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis, Steroid sulfation

Denominator Metabolite Explanation:

Androgen metabolism, Steroid sulfation

Ratio Explanation:

This ratio reflects the activity of the SULT2A1 enzyme on pregnane and androstane substrates; altered SULT2A1 function can disrupt steroid and bile acid homeostasis.3[1], 4[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced SULT2A1 activity alters steroid and bile acid sulfation, which can disrupt cholesterol homeostasis and increase the lithogenicity of bile, leading to a higher risk of cholelithiasis (gallstones).2[1], 5[2], 6[3], 7[4]

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