5alpha-pregnan-3beta,20beta-diol monosulfate (1) to epiandrosterone sulfate

Numerator 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

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: rs77697233

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
10
Beta (Ratio):
-0.213
Position:
5246125
SE (Ratio):
0.023
Effect Allele:
T
Z-score (Ratio):
-9.114
Reference Allele:
C
-log10(P):
-43.977
MAF:
0.148
Beta (Num):
-0.126
Novel Locus:
Yes ✔️
SE (Num):
0.022
Beta (Den):
0.088
SE (Den):
0.020
No CNV overlap
rQTL cluster:
76
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 AKR1C2

Region: rs4881413

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
10
Beta (Ratio):
-0.211
Position:
5258450
SE (Ratio):
0.023
Effect Allele:
T
Z-score (Ratio):
-9.019
Reference Allele:
G
-log10(P):
-43.108
MAF:
0.149
Beta (Num):
-0.124
Novel Locus:
Yes ✔️
SE (Num):
0.022
Beta (Den):
0.087
SE (Den):
0.020
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

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
10
Beta (Ratio):
-0.212
Position:
5262965
SE (Ratio):
0.023
Effect Allele:
C
Z-score (Ratio):
-9.047
Reference Allele:
A
-log10(P):
-43.362
MAF:
0.149
Beta (Num):
-0.124
Novel Locus:
Yes ✔️
SE (Num):
0.022
Beta (Den):
0.088
SE (Den):
0.020
No CNV overlap
rQTL cluster:
285
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis, Progesterone metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Androgen and estrogen metabolism.4[1], 7[2], 8[3]

Ratio Explanation:

This ratio may reflect AKR1C4 activity, which is involved in inactivating both progesterone and androgen metabolites, thereby influencing steroid hormone clearance.1[1], 9[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in AKR1C4 influence its enzymatic activity, altering steroid metabolism.2[1], 10[2] This dysregulation, particularly in the liver, affects bile acid synthesis and lipid metabolism, contributing to phenotypes like altered body weight, triglycerides, and liver enzymes.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