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

Numerator Metabolite

Structure of pregnenolone sulfate
Metabolite Accession: GCST90199873
Name: pregnenolone sulfate
Hmdb Id: HMDB0000774
Super Pathway: NA
Sub Pathway: NA
Inchikey: DIJBBUIOWGGQOP

Denominator 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

Associated Genomic Regions

Region: rs4881413

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.217
Position:
5258450
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
10.258
Reference Allele:
G
-log10(P):
-55.174
MAF:
0.152
Beta (Num):
0.093
Novel Locus:
Yes ✔️
SE (Num):
0.021
Beta (Den):
-0.124
SE (Den):
0.022
No CNV overlap
rQTL cluster:
217
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs140168704

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.217
Position:
5262778
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
10.249
Reference Allele:
C
-log10(P):
-55.083
MAF:
0.151
Beta (Num):
0.093
Novel Locus:
Yes ✔️
SE (Num):
0.021
Beta (Den):
-0.124
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):
0.218
Position:
5262965
SE (Ratio):
0.021
Effect Allele:
C
Z-score (Ratio):
10.286
Reference Allele:
A
-log10(P):
-55.464
MAF:
0.152
Beta (Num):
0.094
Novel Locus:
Yes ✔️
SE (Num):
0.021
Beta (Den):
-0.124
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, Neurosteroid metabolism.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Steroidogenesis, Neurosteroid metabolism.8[1], 9[2], 10[3]

Ratio Explanation:

This ratio may reflect AKR1C4 activity; a higher ratio could suggest reduced conversion of pregnenolone-derived steroids into their downstream reduced metabolites.11[1], 12[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered AKR1C4 activity, indicated by the steroid ratio, likely impairs its primary role in metabolizing bile acids, which can affect liver function markers like GGT, ALP, and total bilirubin, and consequently influence lipid levels including triglycerides and total cholesterol.13[1], 14[2], 15[3], 16[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