pregnenediol disulfate (c21h34o8s2)* to androstenediol (3beta,17beta) disulfate (2)

Numerator Metabolite

Metabolite Accession: GCST90199840
Name: pregnenediol disulfate (c21h34o8s2)*
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: rs62129966

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.454
Position:
48374950
SE (Ratio):
0.013
Effect Allele:
A
Z-score (Ratio):
-34.663
Reference Allele:
C
-log10(P):
-604.534
MAF:
0.160
Beta (Num):
-0.509
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

Region: rs3756669

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Clumped rQTL variant

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SNP Summary

Chr:
5
Beta (Ratio):
0.203
Position:
35965970
SE (Ratio):
0.014
Effect Allele:
C
Z-score (Ratio):
14.730
Reference Allele:
A
-log10(P):
-111.414
MAF:
0.146
Beta (Num):
0.217
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
0.014
SE (Den):
0.019
No CNV overlap
rQTL cluster:
116
Reaction Distance:
NA
Closest Genes:
UGT3A1 CAPSL UGT3A2 IL7R LMBRD2

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis, Sulfation4[1], 5[2]

Denominator Metabolite Explanation:

Androgen and Estrogen Metabolism, Sulfation6[1], 7[2]

Ratio Explanation:

The ratio reflects the relative sulfation activity of SULT2A1 on pregnenolone versus androstenediol precursors, influencing steroid hormone balance.1[1], 8[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in SULT2A1 alter the sulfation of steroids and bile acids, which is a known risk factor for cholelithiasis (gallstone disease).9[1], 10[2], 11[3] Altered bile acid metabolism can lead to cholesterol supersaturation in bile, promoting gallstone formation.10[4]

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