pregnenolone sulfate to DHEAS

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 dehydroepiandrosterone sulfate (dhea-s)
Metabolite Accession: GCST90199673
Name: dehydroepiandrosterone sulfate (dhea-s)
Hmdb Id: HMDB0001032
Super Pathway: NA
Sub Pathway: NA
Inchikey: CZWCKYRVOZZJNM

Associated Genomic Regions

Region: rs11191421

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.125
Position:
104623053
SE (Ratio):
0.014
Effect Allele:
G
Z-score (Ratio):
8.659
Reference Allele:
C
-log10(P):
-39.884
MAF:
0.244
Beta (Num):
0.063
Novel Locus:
Yes ✔️
SE (Num):
0.017
Beta (Den):
-0.062
SE (Den):
0.016
No CNV overlap
rQTL cluster:
66
Reaction Distance:
NA
Closest Genes:
C10orf32-ASMT C10orf32 AS3MT CYP17A1 WBP1L

Region: rs148982377

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Clumped rQTL variant

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SNP Summary

Chr:
7
Beta (Ratio):
0.448
Position:
99075038
SE (Ratio):
0.034
Effect Allele:
C
Z-score (Ratio):
13.073
Reference Allele:
T
-log10(P):
-88.256
MAF:
0.034
Beta (Num):
0.025
Novel Locus:
No
SE (Num):
0.040
Beta (Den):
-0.423
SE (Den):
0.037
No CNV overlap
rQTL cluster:
90
Reaction Distance:
NA
Closest Genes:
ZNF789 ZNF394 ATP5J2 ATP5J2-PTCD1 PTCD1

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis

Denominator Metabolite Explanation:

Steroidogenesis

Ratio Explanation:

The ratio reflects the activity of the CYP17A1 enzyme; a higher ratio suggests reduced conversion of pregnenolone to DHEA, the precursor of DHEAS.1[1], 4[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation influencing CYP17A1 activity alters steroid hormone profiles, reflected by the pregnenolone sulfate to DHEAS ratio. This hormonal imbalance likely affects systemic inflammation (CRP, WBC) and metabolic health (BMI, UA), causing the observed phenotypic associations.5[1], 6[2]

Phenotype Driver:

Gene-centric:CYP17A1

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