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

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: GCST90199856
Name: androstenediol (3alpha, 17alpha) monosulfate (3)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs56075687

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
-0.234
Position:
101620562
SE (Ratio):
0.031
Effect Allele:
G
Z-score (Ratio):
-7.511
Reference Allele:
A
-log10(P):
-30.465
MAF:
0.059
Beta (Num):
-0.165
Novel Locus:
Yes ✔️
SE (Num):
0.033
Beta (Den):
0.069
SE (Den):
0.029
No CNV overlap
rQTL cluster:
68
Reaction Distance:
NA
Closest Genes:
ABCC2 DNMBP CUTC COX15 ENTPD7

LLM Analysis

Numerator Metabolite Explanation:

Steroid hormone biosynthesis, sulfation pathway.7[1], 8[2], 9[3]

Denominator Metabolite Explanation:

Androgen and estrogen metabolism, sulfation pathway.10[1], 11[2]

Ratio Explanation:

The ratio likely reflects altered hepatic transport by ABCC2, as both molecules are sulfated steroids, a known substrate class for this transporter.6[1], 12[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired ABCC2 function due to a missense variant can disrupt the biliary excretion of sulfated steroids, altering their ratio. This hepatic dysfunction is reflected by elevated liver enzymes (AST, ALT, GGT), a phenotype associated with ABCC2 mutations and cholestasis.5[1], 13[2], 14[3], 15[4]

Phenotype Driver:

Gene-centric:ABCC2

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