5alpha-androstan-3beta,17beta-diol disulfate to androstenediol (3alpha, 17alpha) monosulfate (3)

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

Metabolite Accession: GCST90199856
Name: androstenediol (3alpha, 17alpha) monosulfate (3)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs4881413

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.127
Position:
5258450
SE (Ratio):
0.016
Effect Allele:
T
Z-score (Ratio):
7.840
Reference Allele:
G
-log10(P):
-33.035
MAF:
0.150
Beta (Num):
0.088
Novel Locus:
Yes ✔️
SE (Num):
0.019
Beta (Den):
-0.039
SE (Den):
0.019
No CNV overlap
rQTL cluster:
217
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs2151901

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.127
Position:
5262965
SE (Ratio):
0.016
Effect Allele:
C
Z-score (Ratio):
7.855
Reference Allele:
A
-log10(P):
-33.156
MAF:
0.150
Beta (Num):
0.088
Novel Locus:
Yes ✔️
SE (Num):
0.019
Beta (Den):
-0.039
SE (Den):
0.019
No CNV overlap
rQTL cluster:
285
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs17134724

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.128
Position:
5318512
SE (Ratio):
0.016
Effect Allele:
A
Z-score (Ratio):
8.099
Reference Allele:
G
-log10(P):
-35.128
MAF:
0.157
Beta (Num):
0.086
Novel Locus:
Yes ✔️
SE (Num):
0.018
Beta (Den):
-0.042
SE (Den):
0.019
No CNV overlap
rQTL cluster:
76
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 UCN3 TUBAL3 NET1

LLM Analysis

Numerator Metabolite Explanation:

Androgen and estrogen metabolism

Denominator Metabolite Explanation:

Androgen and estrogen metabolism

Ratio Explanation:

The ratio reflects AKR1C4 activity, which catalyzes the reduction of ketosteroids; altered levels suggest differential metabolism of androgen precursors impacting downstream steroid profiles.1[1], 3[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

AKR1C4 genetic variants are linked to altered enzyme activity, influencing steroid and bile acid metabolism.4[1], 5[2] This dysregulation is associated with changes in liver function (GGT, ALP, TBil) and lipid profiles (triglycerides, cholesterol), consistent with the enzyme's role in hepatic lipid homeostasis.5[3], 6[4], 2[5]

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