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

Numerator Metabolite

Structure of 5alpha-pregnan-3beta,20alpha-diol disulfate
Metabolite Accession: GCST90199838
Name: 5alpha-pregnan-3beta,20alpha-diol disulfate
Hmdb Id: HMDB0094650
Super Pathway: NA
Sub Pathway: NA
Inchikey: LSQGWMYMIHQKSA

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: rs112344408

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.284
Position:
101600737
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
-12.195
Reference Allele:
C
-log10(P):
-77.088
MAF:
0.060
Beta (Num):
-0.163
Novel Locus:
Yes ✔️
SE (Num):
0.032
Beta (Den):
0.121
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):
-0.441
Position:
48374950
SE (Ratio):
0.015
Effect Allele:
A
Z-score (Ratio):
-29.632
Reference Allele:
C
-log10(P):
-442.637
MAF:
0.161
Beta (Num):
-0.277
Novel Locus:
No
SE (Num):
0.021
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:

Steroid metabolism, Sulfation6[1], 7[2]

Denominator Metabolite Explanation:

Steroid metabolism, Sulfation6[1], 7[2]

Ratio Explanation:

The ratio reflects the conversion of a monosulfated pregnanediol to its disulfated form, a reaction catalyzed by the sulfotransferase SULT2A1.3[1], 4[2], 6[3]

Ratio Evidence:

canonical reaction catalyzed by the enzyme

Gene Ratio Phenotype Relationship:

Reduced SULT2A1 activity alters steroid sulfation, which can disrupt bile acid homeostasis and biliary transport, contributing to cholelithiasis risk.8[1], 9[2], 10[3], 11[4] The ABCC2 gene is also linked to cholestatic liver diseases.12[5], 13[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