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

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 dehydroepiandrosterone sulfate (dhea-s)
Metabolite Accession: GCST90199673
Name: dehydroepiandrosterone sulfate (dhea-s)
Hmdb Id: HMDB0001032
Super Pathway: NA
Sub Pathway: NA
Inchikey: CZWCKYRVOZZJNM

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):
0.248
Position:
48374950
SE (Ratio):
0.021
Effect Allele:
A
Z-score (Ratio):
11.763
Reference Allele:
C
-log10(P):
-71.876
MAF:
0.162
Beta (Num):
0.163
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
-0.085
SE (Den):
0.018
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis, Progestin steroid metabolism.3[1]

Denominator Metabolite Explanation:

Steroidogenesis, Androgen and estrogen metabolism.4[1], 5[2]

Ratio Explanation:

This ratio reflects the activity of the SULT2A1 enzyme, which sulfates both DHEA to produce DHEAS and likely the precursor to the numerator.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variation in SULT2A1 alters its activity, modifying the balance of sulfated steroids.2[1], 6[2] This change in steroid and bile acid metabolism affects bile composition, increasing the risk of cholesterol gallstone formation (Cholelithiasis) and subsequent inflammation (Cholecystitis).6[3], 7[4], 8[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