5alpha-androstan-3alpha,17beta-diol monosulfate (2) to 21-hydroxypregnenolone disulfate

Numerator Metabolite

Metabolite Accession: GCST90199983
Name: 5alpha-androstan-3alpha,17beta-diol monosulfate (2)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 21-hydroxypregnenolone disulfate
Metabolite Accession: GCST90199849
Name: 21-hydroxypregnenolone disulfate
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: CBOVWLYQUCVTFA

Associated Genomic Regions

Region: rs62129966

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
19
Beta (Ratio):
0.407
Position:
48374950
SE (Ratio):
0.024
Effect Allele:
A
Z-score (Ratio):
16.796
Reference Allele:
C
-log10(P):
-144.110
MAF:
0.168
Beta (Num):
0.248
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
-0.159
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:

Androgen and derivatives metabolism.5[1]

Denominator Metabolite Explanation:

Steroidogenesis, Corticosteroid biosynthesis.6[1], 7[2], 8[3]

Ratio Explanation:

This ratio reflects SULT2A1 activity, where higher values suggest increased sulfation of androgens relative to pregnenolone derivatives, potentially impacting steroid hormone and bile acid homeostasis.1[1], 9[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in SULT2A1 are associated with altered sulfation of steroids and bile acids, which can disrupt cholesterol homeostasis and increase the risk of cholelithiasis, a disease characterized by the formation of gallstones.10[1], 11[2], 12[3], 13[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