5alpha-androstan-3beta,17beta-diol disulfate to 5alpha-pregnan-3beta,20beta-diol monosulfate (1)

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 5alpha-pregnan-3beta,20beta-diol monosulfate (1)
Metabolite Accession: GCST90199853
Name: 5alpha-pregnan-3beta,20beta-diol monosulfate (1)
Hmdb Id: HMDB0240580
Super Pathway: NA
Sub Pathway: NA
Inchikey: NOGKXXMAHGCQBS

Associated Genomic Regions

Region: rs77697233

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.213
Position:
5246125
SE (Ratio):
0.024
Effect Allele:
T
Z-score (Ratio):
8.968
Reference Allele:
C
-log10(P):
-42.646
MAF:
0.149
Beta (Num):
0.088
Novel Locus:
Yes ✔️
SE (Num):
0.019
Beta (Den):
-0.126
SE (Den):
0.022
No CNV overlap
rQTL cluster:
76
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 AKR1C2

Region: rs4881413

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.212
Position:
5258450
SE (Ratio):
0.024
Effect Allele:
T
Z-score (Ratio):
8.926
Reference Allele:
G
-log10(P):
-42.261
MAF:
0.150
Beta (Num):
0.088
Novel Locus:
Yes ✔️
SE (Num):
0.019
Beta (Den):
-0.124
SE (Den):
0.022
No CNV overlap
rQTL cluster:
217
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs2151901

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):
0.212
Position:
5262965
SE (Ratio):
0.024
Effect Allele:
C
Z-score (Ratio):
8.932
Reference Allele:
A
-log10(P):
-42.317
MAF:
0.150
Beta (Num):
0.088
Novel Locus:
Yes ✔️
SE (Num):
0.019
Beta (Den):
-0.124
SE (Den):
0.022
No CNV overlap
rQTL cluster:
285
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

LLM Analysis

Numerator Metabolite Explanation:

Androgen and estrogen metabolism. 1[1], 3[2]

Denominator Metabolite Explanation:

Progesterone metabolism and Steroidogenesis. 1[1], 4[2], 5[3]

Ratio Explanation:

This ratio reflects the relative metabolism of androgens versus progestins. AKR1C4 inactivates precursors to both, so altered function could shift this balance. 1[1], 2[2], 6[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

A functional variant in the liver-specific AKR1C4 gene alters its ability to metabolize steroids and bile acids. 7[1], 8[2]This dysregulation is linked to changes in liver function biomarkers (ALP, GGT, Bilirubin), cholesterol, triglycerides, and hematocrit, which are among the observed associated phenotypes. 7[3], 9[4]

Phenotype Driver:

Gene-centric:AKR1C4

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