androstenediol (3beta,17beta) disulfate (1) to androstenediol (3beta,17beta) monosulfate (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) monosulfate (2)
Metabolite Accession: GCST90199871
Name: androstenediol (3beta,17beta) monosulfate (2)
Hmdb Id: HMDB0240429,HMDB0186954
Super Pathway: NA
Sub Pathway: NA
Inchikey: KMTOEENORMWLCF

Associated Genomic Regions

Region: rs4149056

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Clumped rQTL variant

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SNP Summary

Chr:
12
Beta (Ratio):
0.228
Position:
21331549
SE (Ratio):
0.013
Effect Allele:
C
Z-score (Ratio):
17.583
Reference Allele:
T
-log10(P):
-157.681
MAF:
0.156
Beta (Num):
0.115
Novel Locus:
Yes ✔️
SE (Num):
0.019
Beta (Den):
-0.113
SE (Den):
0.021
No CNV overlap
rQTL cluster:
52
Reaction Distance:
NA
Closest Genes:
SLCO1B1 RP11-125O5.2 SLCO1B7 SLCO1A2 LST3

Region: rs62129966

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.312
Position:
48374950
SE (Ratio):
0.013
Effect Allele:
A
Z-score (Ratio):
-24.393
Reference Allele:
C
-log10(P):
-300.926
MAF:
0.160
Beta (Num):
-0.399
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
-0.087
SE (Den):
0.020
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Steroid sulfation

Denominator Metabolite Explanation:

Steroid sulfation

Ratio Explanation:

The ratio reflects the balance of sulfation activity, where SULT2A1 synthesizes the monosulfated denominator from androstenediol, and subsequent sulfation or clearance affects the ratio.6[1], 7[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in SULT2A1 and SLCO1B1 alter steroid and bile acid metabolism and transport in the liver.8[1], 9[2], 6[3], 10[4] This dysregulation is a known risk factor for cholelithiasis, a phenotype strongly associated with these genes.11[5], 12[6], 13[7], 14[8], 15[9], 16[10]

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