pregnenediol disulfate (c21h34o8s2)* to 5alpha-androstan-3alpha,17beta-diol monosulfate (2)

Numerator Metabolite

Metabolite Accession: GCST90199840
Name: pregnenediol disulfate (c21h34o8s2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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):
-0.758
Position:
48374950
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
-32.370
Reference Allele:
C
-log10(P):
-527.610
MAF:
0.160
Beta (Num):
-0.509
Novel Locus:
No
SE (Num):
0.018
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, Pregnenolone/Progesterone Metabolism3[1], 4[2]

Denominator Metabolite Explanation:

Androgen and Estrogen Metabolism5[1], 4[2]

Ratio Explanation:

This ratio reflects the relative activity of sulfation pathways for pregnenolone/progesterone and androgen metabolites, potentially influenced by SULT2A1 activity on these steroid classes.2[1], 6[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

SULT2A1 variants are associated with cholelithiasis.7[1], 8[2], 9[3] Altered SULT2A1 activity likely affects bile acid and steroid sulfation, which can contribute to gallstone formation, cholecystitis, and changes in ALP levels.10[4], 11[5], 12[6]

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