pregnenetriol sulfate* to androstenediol (3beta,17beta) disulfate (2)

Numerator Metabolite

Structure of pregnenetriol sulfate*
Metabolite Accession: GCST90200241
Name: pregnenetriol sulfate*
Hmdb Id: HMDB0241920
Super Pathway: NA
Sub Pathway: NA
Inchikey: DENIQPHQUIGDJZ

Denominator Metabolite

Structure of androstenediol (3beta,17beta) disulfate (2)
Metabolite Accession: GCST90199851
Name: androstenediol (3beta,17beta) disulfate (2)
Hmdb Id: HMDB0240313
Super Pathway: NA
Sub Pathway: NA
Inchikey: UWPTUYJASNIIJM

Associated Genomic Regions

Region: rs72963813

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Clumped rQTL variant

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SNP Summary

Chr:
18
Beta (Ratio):
0.132
Position:
71948446
SE (Ratio):
0.015
Effect Allele:
A
Z-score (Ratio):
8.868
Reference Allele:
G
-log10(P):
-41.738
MAF:
0.153
Beta (Num):
0.071
Novel Locus:
Yes ✔️
SE (Num):
0.018
Beta (Den):
-0.061
SE (Den):
0.019
No CNV overlap
rQTL cluster:
14
Reaction Distance:
NA
Closest Genes:
CYB5A C18orf63 TIMM21 FBXO15 FAM69C

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis

Denominator Metabolite Explanation:

Steroidogenesis

Ratio Explanation:

An increased ratio may indicate altered steroid metabolism, potentially influenced by CYB5A activity on pregnenolone and its downstream conversion to androstenediol.1[1], 3[2], 4[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Elevated liver enzymes (AST, ALT, GGT) are associated with cholestatic patterns of liver injury.5[1] The ABCC2 gene, a close genetic association, encodes a transporter protein involved in the biliary excretion of sulfated steroids, and its dysfunction can lead to cholestasis.6[2], 7[3], 8[4] Altered steroid metabolism, potentially influenced by CYB5A, may contribute to the substrate load for ABCC2.

Phenotype Driver:

Gene-centric:ABCC2

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