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

Numerator Metabolite

Metabolite Accession: GCST90200238
Name: pregnenetriol disulfate*
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):
-0.807
Position:
48374950
SE (Ratio):
0.025
Effect Allele:
A
Z-score (Ratio):
-32.826
Reference Allele:
C
-log10(P):
-542.499
MAF:
0.160
Beta (Num):
-0.559
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, Steroid sulfation

Denominator Metabolite Explanation:

Androgen Metabolism, Steroid sulfation

Ratio Explanation:

The ratio reflects the relative activity of SULT2A1 on different steroid hormone precursors, comparing the formation of a disulfated pregnenetriol to a monosulfated androstanediol.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in SULT2A1 alter its efficiency in sulfating steroids and bile acids.4[1], 5[2] This altered metabolism, reflected by the ratio, can disrupt bile acid homeostasis, increasing the risk of cholesterol gallstone formation (cholelithiasis) and subsequent gallbladder inflammation (cholecystitis).6[3], 7[4], 8[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