androstenediol (3beta,17beta) disulfate (2) to 5alpha-pregnan-3beta,20alpha-diol monosulfate (2)

Numerator 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

Denominator Metabolite

Metabolite Accession: GCST90199854
Name: 5alpha-pregnan-3beta,20alpha-diol monosulfate (2)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs7475281

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.239
Position:
5252902
SE (Ratio):
0.023
Effect Allele:
C
Z-score (Ratio):
-10.590
Reference Allele:
A
-log10(P):
-58.669
MAF:
0.149
Beta (Num):
-0.128
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
0.111
SE (Den):
0.022
No CNV overlap
rQTL cluster:
76
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs4881413

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.236
Position:
5258450
SE (Ratio):
0.023
Effect Allele:
T
Z-score (Ratio):
-10.465
Reference Allele:
G
-log10(P):
-57.338
MAF:
0.150
Beta (Num):
-0.127
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
0.109
SE (Den):
0.022
No CNV overlap
rQTL cluster:
217
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs2151901

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.235
Position:
5262965
SE (Ratio):
0.023
Effect Allele:
C
Z-score (Ratio):
-10.418
Reference Allele:
A
-log10(P):
-56.851
MAF:
0.150
Beta (Num):
-0.126
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
0.109
SE (Den):
0.022
No CNV overlap
rQTL cluster:
285
Reaction Distance:
NA
Closest Genes:
AKR1C4 AKR1CL1 AKR1C3 UCN3 TUBAL3

Region: rs56080571

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.259
Position:
101616892
SE (Ratio):
0.034
Effect Allele:
G
Z-score (Ratio):
-7.660
Reference Allele:
A
-log10(P):
-31.617
MAF:
0.060
Beta (Num):
-0.136
Novel Locus:
Yes ✔️
SE (Num):
0.029
Beta (Den):
0.123
SE (Den):
0.033
No CNV overlap
rQTL cluster:
68
Reaction Distance:
NA
Closest Genes:
ABCC2 DNMBP CUTC COX15 ENTPD7

Region: rs62129966

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.219
Position:
48374950
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
-10.086
Reference Allele:
C
-log10(P):
-53.410
MAF:
0.161
Beta (Num):
-0.056
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
0.163
SE (Den):
0.021
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis, Androgen and Estrogen Metabolism

Denominator Metabolite Explanation:

Progesterone Metabolism, Steroid Metabolism

Ratio Explanation:

The ratio reflects sulfation activity by SULT2A1 on different steroid hormone precursors, linking androgen and progesterone metabolic pathways.4[1], 5[2], 6[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

SULT2A1 genetic variants are associated with cholelithiasis.3[1], 7[2] Altered SULT2A1 activity likely modifies steroid and bile acid sulfation, which can disrupt cholesterol solubility and promote gallstone formation, a key factor in cholelithiasis pathogenesis.1[3], 3[4], 8[5], 9[6]

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