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

Numerator Metabolite

Structure of 5alpha-pregnan-3beta,20alpha-diol disulfate
Metabolite Accession: GCST90199838
Name: 5alpha-pregnan-3beta,20alpha-diol disulfate
Hmdb Id: HMDB0094650
Super Pathway: NA
Sub Pathway: NA
Inchikey: LSQGWMYMIHQKSA

Denominator Metabolite

Structure of 5alpha-androstan-3alpha,17alpha-diol monosulfate
Metabolite Accession: GCST90199850
Name: 5alpha-androstan-3alpha,17alpha-diol monosulfate
Hmdb Id: HMDB0000412
Super Pathway: NA
Sub Pathway: NA
Inchikey: CBMYJHIOYJEBSB

Associated Genomic Regions

Region: rs75406471

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.332
Position:
5257647
SE (Ratio):
0.030
Effect Allele:
A
Z-score (Ratio):
11.191
Reference Allele:
G
-log10(P):
-65.268
MAF:
0.150
Beta (Num):
0.104
Novel Locus:
No
SE (Num):
0.022
Beta (Den):
-0.228
SE (Den):
0.026
No CNV overlap
rQTL cluster:
76
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs4881413

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.329
Position:
5258450
SE (Ratio):
0.030
Effect Allele:
T
Z-score (Ratio):
11.047
Reference Allele:
G
-log10(P):
-63.655
MAF:
0.150
Beta (Num):
0.103
Novel Locus:
No
SE (Num):
0.022
Beta (Den):
-0.226
SE (Den):
0.026
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):
0.331
Position:
5262965
SE (Ratio):
0.030
Effect Allele:
C
Z-score (Ratio):
11.103
Reference Allele:
A
-log10(P):
-64.283
MAF:
0.150
Beta (Num):
0.102
Novel Locus:
No
SE (Num):
0.022
Beta (Den):
-0.228
SE (Den):
0.026
No CNV overlap
rQTL cluster:
285
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

LLM Analysis

Numerator Metabolite Explanation:

Progesterone metabolism, steroid hormone biosynthesis.5[1], 6[2]

Denominator Metabolite Explanation:

Androgen metabolism, steroid hormone biosynthesis.7[1], 8[2]

Ratio Explanation:

This ratio may reflect AKR1C4 activity, which is involved in both progesterone and androgen metabolism, influencing the balance between these two steroid pathways.2[1], 9[2], 10[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered AKR1C4 function likely modifies hepatic steroid and bile acid metabolism, contributing to changes in liver function markers (ALP, GGT, Bilirubin) and systemic metabolic parameters like cholesterol, triglycerides, and body composition (height, weight, hematocrit), which are observed phenotypes.3[1], 9[2], 11[3], 12[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