pregnenetriol disulfate* to DHEAS

Numerator Metabolite

Metabolite Accession: GCST90200238
Name: pregnenetriol disulfate*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of dehydroepiandrosterone sulfate (dhea-s)
Metabolite Accession: GCST90199673
Name: dehydroepiandrosterone sulfate (dhea-s)
Hmdb Id: HMDB0001032
Super Pathway: NA
Sub Pathway: NA
Inchikey: CZWCKYRVOZZJNM

Associated Genomic Regions

Region: rs72838150

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:
10
Beta (Ratio):
-0.244
Position:
101609662
SE (Ratio):
0.028
Effect Allele:
A
Z-score (Ratio):
-8.809
Reference Allele:
G
-log10(P):
-41.213
MAF:
0.059
Beta (Num):
-0.181
Novel Locus:
Yes ✔️
SE (Num):
0.030
Beta (Den):
0.063
SE (Den):
0.029
No CNV overlap
rQTL cluster:
68
Reaction Distance:
NA
Closest Genes:
ABCC2 DNMBP CUTC COX15 ENTPD7

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis; Sulfation.6[1], 7[2]

Denominator Metabolite Explanation:

Adrenal steroidogenesis; Sulfation.8[1], 9[2], 10[3]

Ratio Explanation:

This ratio reflects altered biliary clearance of pregnenetriol disulfate relative to DHEAS, likely due to dysfunction of the shared ABCC2 transporter.5[1]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired ABCC2 transporter function diminishes biliary clearance, causing cholestasis and subsequent liver cell damage, which is reflected by elevated AST, GGT, and ALT.11[1], 12[2], 13[3] The altered steroid ratio is a biomarker of this transporter defect.

Phenotype Driver:

Gene-centric:ABCC2

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