pregnenetriol sulfate* to 5alpha-pregnan-3beta,20alpha-diol monosulfate (2)

Numerator Metabolite

Structure of pregnenetriol sulfate*
Metabolite Accession: GCST90200241
Name: pregnenetriol sulfate*
Hmdb Id: HMDB0241920
Super Pathway: NA
Sub Pathway: NA
Inchikey: DENIQPHQUIGDJZ

Denominator Metabolite

Metabolite Accession: GCST90199854
Name: 5alpha-pregnan-3beta,20alpha-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):
-0.421
Position:
48374950
SE (Ratio):
0.021
Effect Allele:
A
Z-score (Ratio):
-19.583
Reference Allele:
C
-log10(P):
-194.957
MAF:
0.161
Beta (Num):
-0.257
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.163
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:

Steroid hormone biosynthesis

Denominator Metabolite Explanation:

Steroid hormone biosynthesis

Ratio Explanation:

The ratio likely reflects SULT2A1 enzymatic activity, where altered function changes the relative abundance of pregnenetriol sulfate and 5alpha-pregnan-3beta,20alpha-diol monosulfate (2).

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered SULT2A1 function, indicated by the metabolite ratio, likely impacts bile acid sulfation and cholesterol metabolism.3[1], 4[2], 5[3] This change in bile composition is a known risk factor for cholelithiasis, which can lead to cholecystitis and elevated alkaline phosphatase.5[4], 6[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