5alpha-androstan-3beta,17beta-diol disulfate to epiandrosterone sulfate

Numerator Metabolite

Metabolite Accession: GCST90199835
Name: 5alpha-androstan-3beta,17beta-diol disulfate
Hmdb Id: HMDB00493
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of epiandrosterone sulfate
Metabolite Accession: GCST90199752
Name: epiandrosterone sulfate
Hmdb Id: HMDB0062657
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZMITXKRGXGRMKS

Associated Genomic Regions

Region: rs113354025

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):
-0.196
Position:
101625549
SE (Ratio):
0.023
Effect Allele:
T
Z-score (Ratio):
-8.604
Reference Allele:
C
-log10(P):
-39.405
MAF:
0.059
Beta (Num):
-0.094
Novel Locus:
Yes ✔️
SE (Num):
0.028
Beta (Den):
0.102
SE (Den):
0.031
No CNV overlap
rQTL cluster:
68
Reaction Distance:
NA
Closest Genes:
DNMBP ABCC2 CUTC COX15 ENTPD7

LLM Analysis

Numerator Metabolite Explanation:

Androgen and steroid metabolism, sulfation.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Androgen and steroid metabolism, sulfation.8[1], 9[2], 10[3]

Ratio Explanation:

The ratio reflects altered ABCC2-mediated transport of sulfated steroids, where a dysfunctional transporter could lead to intracellular accumulation or altered efflux of these metabolites.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

A missense variant in ABCC2 may impair its transport function, leading to an altered ratio of steroid sulfates and contributing to liver stress, reflected by elevated liver enzymes (AST, GGT, ALT).11[1], 12[2]

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