pregnenolone sulfate to pregnanediol-3-glucuronide

Numerator Metabolite

Structure of pregnenolone sulfate
Metabolite Accession: GCST90199873
Name: pregnenolone sulfate
Hmdb Id: HMDB0000774
Super Pathway: NA
Sub Pathway: NA
Inchikey: DIJBBUIOWGGQOP

Denominator Metabolite

Structure of pregnanediol-3-glucuronide
Metabolite Accession: GCST90199917
Name: pregnanediol-3-glucuronide
Hmdb Id: HMDB0010318
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZFFFJLDTCLJDHL

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):
-0.213
Position:
48374950
SE (Ratio):
0.021
Effect Allele:
A
Z-score (Ratio):
-10.057
Reference Allele:
C
-log10(P):
-53.114
MAF:
0.159
Beta (Num):
-0.102
Novel Locus:
Yes ✔️
SE (Num):
0.020
Beta (Den):
0.112
SE (Den):
0.021
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis3[1]

Denominator Metabolite Explanation:

Progesterone metabolism, Glucuronidation4[1], 5[2]

Ratio Explanation:

This ratio reflects SULT2A1 activity, which sulfates pregnenolone to pregnenolone sulfate (numerator), reducing its availability for conversion to progesterone and its metabolite, pregnanediol-3-glucuronide (denominator).

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variants in SULT2A1 are associated with cholelithiasis.6[1], 7[2], 8[3] Altered SULT2A1 activity, reflected by the pregnenolone sulfate/pregnanediol-3-glucuronide ratio, likely impacts bile acid composition and steroid homeostasis, increasing the risk of gallstone formation.9[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