pregnenediol disulfate (c21h34o8s2)* to 21-hydroxypregnenolone disulfate

Numerator Metabolite

Metabolite Accession: GCST90199840
Name: pregnenediol disulfate (c21h34o8s2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 21-hydroxypregnenolone disulfate
Metabolite Accession: GCST90199849
Name: 21-hydroxypregnenolone disulfate
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: CBOVWLYQUCVTFA

Associated Genomic Regions

Region: rs12132488

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:
1
Beta (Ratio):
0.182
Position:
47389613
SE (Ratio):
0.014
Effect Allele:
T
Z-score (Ratio):
12.587
Reference Allele:
C
-log10(P):
-81.976
MAF:
0.128
Beta (Num):
-0.007
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
-0.189
SE (Den):
0.022
No CNV overlap
rQTL cluster:
163
Reaction Distance:
NA
Closest Genes:
CYP4A11 CYP4X1 CYP4B1 CYP4Z1 EFCAB14

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis / Steroid sulfation4[1], 5[2]

Denominator Metabolite Explanation:

Steroidogenesis / Steroid sulfation6[1], 7[2]

Ratio Explanation:

The ratio reflects SULT2A1 activity; lower enzymatic function likely results in reduced sulfation of steroid precursors, impacting the balance between pregnenediol disulfate and 21-hydroxypregnenolone disulfate.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced SULT2A1 activity, indicated by the altered ratio of pregnenediol disulfate to 21-hydroxypregnenolone disulfate, affects bile acid metabolism.8[1], 9[2] This disruption in steroid and bile acid processing is a risk factor for cholelithiasis (gallstone disease)9[3], 10[4], 11[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