pregnenetriol disulfate* to 5alpha-pregnan-3beta,20alpha-diol disulfate

Numerator Metabolite

Metabolite Accession: GCST90200238
Name: pregnenetriol disulfate*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator 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

Associated Genomic Regions

Region: rs4881413

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.156
Position:
5258450
SE (Ratio):
0.019
Effect Allele:
T
Z-score (Ratio):
-8.144
Reference Allele:
G
-log10(P):
-35.498
MAF:
0.150
Beta (Num):
-0.053
Novel Locus:
Yes ✔️
SE (Num):
0.020
Beta (Den):
0.103
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):
-0.158
Position:
5261175
SE (Ratio):
0.019
Effect Allele:
G
Z-score (Ratio):
-8.285
Reference Allele:
A
-log10(P):
-36.672
MAF:
0.149
Beta (Num):
-0.055
Novel Locus:
Yes ✔️
SE (Num):
0.020
Beta (Den):
0.103
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):
-0.156
Position:
5262965
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
-8.149
Reference Allele:
A
-log10(P):
-35.541
MAF:
0.150
Beta (Num):
-0.054
Novel Locus:
Yes ✔️
SE (Num):
0.020
Beta (Den):
0.102
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:

Steroidogenesis, Pregnenolone metabolism3[1], 4[2]

Denominator Metabolite Explanation:

Steroidogenesis, Progesterone metabolism5[1], 6[2]

Ratio Explanation:

The ratio of pregnenetriol disulfate to its downstream metabolite 5alpha-pregnan-3beta,20alpha-diol disulfate likely reflects altered activity of steroidogenic enzymes, including AKR1C4.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

AKR1C4 genetic variation alters steroid and bile acid metabolism, reflected in the pregnenetriol to pregnanediol sulfate ratio, which associates with anthropometric (body weight, height) and liver-related (GGT, ALP, Bilirubin, cholesterol, triglycerides) phenotypes.7[1], 8[2]

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