5alpha-pregnan-3beta,20beta-diol monosulfate (1) to 5alpha-androstan-3beta,17beta-diol monosulfate (2)

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

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

Associated Genomic Regions

Region: rs77697233

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.225
Position:
5246125
SE (Ratio):
0.026
Effect Allele:
T
Z-score (Ratio):
-8.621
Reference Allele:
C
-log10(P):
-39.551
MAF:
0.148
Beta (Num):
-0.126
Novel Locus:
Yes ✔️
SE (Num):
0.022
Beta (Den):
0.100
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):
-0.221
Position:
5258450
SE (Ratio):
0.026
Effect Allele:
T
Z-score (Ratio):
-8.475
Reference Allele:
G
-log10(P):
-38.291
MAF:
0.149
Beta (Num):
-0.124
Novel Locus:
Yes ✔️
SE (Num):
0.022
Beta (Den):
0.097
SE (Den):
0.022
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):
-0.221
Position:
5262965
SE (Ratio):
0.026
Effect Allele:
C
Z-score (Ratio):
-8.474
Reference Allele:
A
-log10(P):
-38.282
MAF:
0.149
Beta (Num):
-0.124
Novel Locus:
Yes ✔️
SE (Num):
0.022
Beta (Den):
0.098
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:

Progestin steroid metabolism

Denominator Metabolite Explanation:

Androgen metabolism

Ratio Explanation:

The ratio reflects the relative activity of progesterone versus androgen metabolic pathways, potentially modulated by AKR1C4, which metabolizes substrates in both pathways.2[1], 5[2], 6[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced AKR1C4 function may alter steroid metabolism, contributing to changes in body weight and composition.7[1], 8[2], 9[3] AKR1C4's role in bile acid and lipid metabolism provides a link to phenotypes like triglycerides, GGT, and bilirubin levels, with altered levels impacting liver function and overall metabolic health.1[4], 7[5], 4[6], 10[7]

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