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

Numerator Metabolite

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

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: rs1790832

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Clumped rQTL variant

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SNP Summary

Chr:
18
Beta (Ratio):
0.113
Position:
71963810
SE (Ratio):
0.014
Effect Allele:
C
Z-score (Ratio):
7.935
Reference Allele:
T
-log10(P):
-33.795
MAF:
0.163
Beta (Num):
0.060
Novel Locus:
Yes ✔️
SE (Num):
0.019
Beta (Den):
-0.054
SE (Den):
0.019
No CNV overlap
rQTL cluster:
14
Reaction Distance:
NA
Closest Genes:
CYB5A C18orf63 TIMM21 FAM69C FBXO15

Region: rs62129966

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.503
Position:
48374950
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
-36.000
Reference Allele:
C
-log10(P):
-651.820
MAF:
0.160
Beta (Num):
-0.559
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.056
SE (Den):
0.019
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis, Sulfation

Denominator Metabolite Explanation:

Steroidogenesis, Sulfation

Ratio Explanation:

The ratio likely reflects SULT2A1 activity, which sulfates both pregnenetriol and androstenediol, affecting their balance and subsequent excretion or downstream signaling.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in SULT2A1 alter its enzymatic activity, impacting the balance of sulfated steroids and bile acids.1[1], 3[2] This dysregulation is a known mechanism contributing to cholelithiasis (gallstones), which can lead to cholecystitis and elevated alkaline phosphatase.4[3], 5[4], 6[5]

Phenotype Driver:

Gene-centric:SULT2A1

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