pregnenolone sulfate to 5alpha-androstan-3alpha,17alpha-diol monosulfate

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-androstan-3alpha,17alpha-diol monosulfate
Metabolite Accession: GCST90199850
Name: 5alpha-androstan-3alpha,17alpha-diol monosulfate
Hmdb Id: HMDB0000412
Super Pathway: NA
Sub Pathway: NA
Inchikey: CBMYJHIOYJEBSB

Associated Genomic Regions

Region: rs75406471

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.321
Position:
5257647
SE (Ratio):
0.030
Effect Allele:
A
Z-score (Ratio):
10.803
Reference Allele:
G
-log10(P):
-60.972
MAF:
0.152
Beta (Num):
0.093
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
-0.228
SE (Den):
0.026
No CNV overlap
rQTL cluster:
76
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs4881413

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.320
Position:
5258450
SE (Ratio):
0.030
Effect Allele:
T
Z-score (Ratio):
10.709
Reference Allele:
G
-log10(P):
-59.948
MAF:
0.152
Beta (Num):
0.093
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
-0.226
SE (Den):
0.026
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):
0.322
Position:
5262965
SE (Ratio):
0.030
Effect Allele:
C
Z-score (Ratio):
10.796
Reference Allele:
A
-log10(P):
-60.889
MAF:
0.152
Beta (Num):
0.094
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
-0.228
SE (Den):
0.026
No CNV overlap
rQTL cluster:
285
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis3[1], 4[2]

Denominator Metabolite Explanation:

Androgen and estrogen metabolism5[1], 6[2]

Ratio Explanation:

This ratio reflects the balance between pregnenolone sulfate, a precursor in steroid synthesis, and a downstream androgen metabolite, potentially influenced by AKR1C4 activity.3[1], 5[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

The AKR1C4 gene is pivotal in metabolizing steroids, including those involved in bile acid synthesis and lipid regulation.2[1], 7[2] Altered AKR1C4 function could impact the levels of various steroid metabolites, which in turn are associated with phenotypes like ALP, total cholesterol, triglycerides, and hematocrit/hemoglobin levels.7[3], 8[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