5alpha-pregnan-3beta,20alpha-diol disulfate to pregnenediol disulfate (c21h34o8s2)*

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

Metabolite Accession: GCST90199840
Name: pregnenediol disulfate (c21h34o8s2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs17134531

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.160
Position:
5246085
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
9.561
Reference Allele:
G
-log10(P):
-48.196
MAF:
0.149
Beta (Num):
0.102
Novel Locus:
Yes ✔️
SE (Num):
0.022
Beta (Den):
-0.058
SE (Den):
0.019
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):
0.157
Position:
5258450
SE (Ratio):
0.017
Effect Allele:
T
Z-score (Ratio):
9.403
Reference Allele:
G
-log10(P):
-46.683
MAF:
0.150
Beta (Num):
0.103
Novel Locus:
Yes ✔️
SE (Num):
0.022
Beta (Den):
-0.055
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):
0.157
Position:
5262965
SE (Ratio):
0.017
Effect Allele:
C
Z-score (Ratio):
9.397
Reference Allele:
A
-log10(P):
-46.629
MAF:
0.150
Beta (Num):
0.102
Novel Locus:
Yes ✔️
SE (Num):
0.022
Beta (Den):
-0.055
SE (Den):
0.019
No CNV overlap
rQTL cluster:
285
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

LLM Analysis

Numerator Metabolite Explanation:

Steroid hormone metabolism, Progesterone degradation.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Steroid hormone biosynthesis.8[1], 9[2]

Ratio Explanation:

The ratio reflects AKR1C4 enzymatic activity, indicating the conversion rate of upstream pregnenolone/progesterone derivatives to downstream 5-alpha-reduced pregnanediol metabolites.6[1], 7[2], 8[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered AKR1C4 activity dysregulates hepatic steroid and bile acid metabolism, influencing liver function (GGT, ALP), lipid levels (triglycerides, cholesterol), and body weight.1[1], 10[2], 11[3] This aligns with genetic variants in AKR1C4 being linked to triglyceride levels.10[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