5alpha-androstan-3beta,17beta-diol monosulfate (2) to 5alpha-androstan-3alpha,17beta-diol monosulfate (1)

Numerator Metabolite

Metabolite Accession: GCST90199855
Name: 5alpha-androstan-3beta,17beta-diol monosulfate (2)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90199858
Name: 5alpha-androstan-3alpha,17beta-diol monosulfate (1)
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):
0.116
Position:
5258450
SE (Ratio):
0.015
Effect Allele:
T
Z-score (Ratio):
7.634
Reference Allele:
G
-log10(P):
-31.411
MAF:
0.151
Beta (Num):
0.097
Novel Locus:
Yes ✔️
SE (Num):
0.022
Beta (Den):
-0.019
SE (Den):
0.022
No CNV overlap
rQTL cluster:
217
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs17134601

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.117
Position:
5261175
SE (Ratio):
0.015
Effect Allele:
G
Z-score (Ratio):
7.731
Reference Allele:
A
-log10(P):
-32.173
MAF:
0.150
Beta (Num):
0.098
Novel Locus:
Yes ✔️
SE (Num):
0.022
Beta (Den):
-0.020
SE (Den):
0.022
No CNV overlap
rQTL cluster:
76
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):
0.115
Position:
5262965
SE (Ratio):
0.015
Effect Allele:
C
Z-score (Ratio):
7.562
Reference Allele:
A
-log10(P):
-30.857
MAF:
0.151
Beta (Num):
0.098
Novel Locus:
Yes ✔️
SE (Num):
0.022
Beta (Den):
-0.017
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

Denominator Metabolite Explanation:

Androgen and estrogen metabolism

Ratio Explanation:

The ratio of 5alpha-androstan-3beta,17beta-diol monosulfate to its 3alpha-epimer reflects the stereospecific reductase activity of enzymes like AKR1C4, influencing androgen inactivation.3[1], 4[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

AKR1C4's role in steroid and bile acid metabolism links it to liver-centric phenotypes.1[1], 2[2], 5[3] Altered activity, reflected in the metabolite ratio, may impact body weight and liver function markers like GGT and bilirubin.

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