5alpha-pregnan-3beta,20alpha-diol monosulfate (2) to epiandrosterone 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 epiandrosterone sulfate
Metabolite Accession: GCST90199752
Name: epiandrosterone sulfate
Hmdb Id: HMDB0062657
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):
0.218
Position:
48374950
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
9.918
Reference Allele:
C
-log10(P):
-51.711
MAF:
0.162
Beta (Num):
0.163
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
-0.055
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:

Progesterone/Steroid Metabolism4[1], 5[2]

Denominator Metabolite Explanation:

Androgen/Steroid Metabolism6[1], 7[2], 8[3]

Ratio Explanation:

The ratio reflects the activity of SULT2A1 on pregnane-type steroids (numerator) versus androstane-type steroids (denominator), indicating a balance in steroid hormone sulfation pathways.9[1], 10[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variation in SULT2A1, an enzyme that sulfates steroids and bile acids, alters steroid metabolism, as reflected by the ratio.1[1], 11[2] This alteration in steroid and bile acid handling is a known risk factor for cholelithiasis (gallstone disease).12[3], 13[4], 14[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