androstenediol (3beta,17beta) disulfate (1) to androstenediol (3beta,17beta) disulfate (2)

Numerator Metabolite

Structure of androstenediol (3beta,17beta) disulfate (1)
Metabolite Accession: GCST90199842
Name: androstenediol (3beta,17beta) disulfate (1)
Hmdb Id: HMDB0240313
Super Pathway: NA
Sub Pathway: NA
Inchikey: UWPTUYJASNIIJM

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):
-0.343
Position:
48374950
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
-23.884
Reference Allele:
C
-log10(P):
-288.616
MAF:
0.160
Beta (Num):
-0.399
Novel Locus:
No
SE (Num):
0.019
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: rs118168183

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Clumped rQTL variant

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SNP Summary

Chr:
7
Beta (Ratio):
-0.390
Position:
99291144
SE (Ratio):
0.034
Effect Allele:
A
Z-score (Ratio):
-11.567
Reference Allele:
G
-log10(P):
-69.581
MAF:
0.026
Beta (Num):
-0.330
Novel Locus:
No
SE (Num):
0.044
Beta (Den):
0.060
SE (Den):
0.043
No CNV overlap
rQTL cluster:
90
Reaction Distance:
NA
Closest Genes:
CYP3A7 CYP3A5 ZSCAN25 CYP3A4 GS1-259H13.10

LLM Analysis

Numerator Metabolite Explanation:

Androgen and Steroid Metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Androgen and Steroid Metabolism.4[1], 5[2]

Ratio Explanation:

This ratio of two androstenediol disulfate measurements likely reflects the activity of the SULT2A1 enzyme, which catalyzes the sulfation of the precursor androstenediol.2[1], 6[2], 7[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variation in SULT2A1 alters its sulfation of steroids and bile acids.2[1], 8[2] This dysregulation of bile acid homeostasis is a primary risk factor for cholelithiasis (gallstones) and related inflammation, such as cholecystitis and elevated C-reactive protein.9[3], 10[4], 11[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