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

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

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):
-0.265
Position:
48374950
SE (Ratio):
0.020
Effect Allele:
A
Z-score (Ratio):
-13.004
Reference Allele:
C
-log10(P):
-87.352
MAF:
0.159
Beta (Num):
-0.102
Novel Locus:
No
SE (Num):
0.020
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:

Steroidogenesis, Steroid sulfation.3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Steroid metabolism.6[1], 7[2]

Ratio Explanation:

The ratio reflects SULT2A1 activity, which produces pregnenolone sulfate, relative to the downstream, multi-step metabolic product 5alpha-pregnan-3beta,20alpha-diol monosulfate (2).5[1], 2[2], 6[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variants in SULT2A1 alter the sulfation of steroids and bile acids, a process reflected by the metabolite ratio.8[1], 2[2], 9[3] This altered metabolism can change bile composition, increasing the risk for cholelithiasis (gallstones), cholecystitis, and associated elevation of alkaline phosphatase.10[4], 8[5], 11[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