pregnanediol-3-glucuronide to 5alpha-pregnan-diol disulfate

Numerator Metabolite

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

Denominator Metabolite

Structure of 5alpha-pregnan-diol disulfate
Metabolite Accession: GCST90199857
Name: 5alpha-pregnan-diol disulfate
Hmdb Id: HMDB0240581,HMDB0240582
Super Pathway: NA
Sub Pathway: NA
Inchikey: LSQGWMYMIHQKSA

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):
0.312
Position:
48374950
SE (Ratio):
0.033
Effect Allele:
A
Z-score (Ratio):
9.381
Reference Allele:
C
-log10(P):
-46.475
MAF:
0.162
Beta (Num):
0.112
Novel Locus:
Yes ✔️
SE (Num):
0.021
Beta (Den):
-0.201
SE (Den):
0.033
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Progesterone metabolism, glucuronidation4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Steroid metabolism, sulfation7[1], 8[2], 9[3]

Ratio Explanation:

This ratio reflects the balance between two major progesterone metabolite elimination pathways, glucuronidation and sulfation, influenced by SULT2A1 activity.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced SULT2A1 activity alters steroid metabolism, impacting progesterone metabolite levels.2[1], 10[2] Progesterone and its metabolites are linked to reduced gallbladder motility and increased bile cholesterol, which are risk factors for cholelithiasis.11[3], 12[4], 13[5], 10[6], 14[7] This suggests a causal link between SULT2A1 function, altered steroid profiles, and gallstone disease.15[8], 16[9], 17[10]

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