5alpha-pregnan-3beta,20alpha-diol disulfate to epiandrosterone sulfate

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

Structure of epiandrosterone sulfate
Metabolite Accession: GCST90199752
Name: epiandrosterone sulfate
Hmdb Id: HMDB0062657
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZMITXKRGXGRMKS

Associated Genomic Regions

Region: rs117212403

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):
-0.275
Position:
101623253
SE (Ratio):
0.036
Effect Allele:
T
Z-score (Ratio):
-7.637
Reference Allele:
C
-log10(P):
-31.440
MAF:
0.053
Beta (Num):
-0.161
Novel Locus:
Yes ✔️
SE (Num):
0.034
Beta (Den):
0.115
SE (Den):
0.032
No CNV overlap
rQTL cluster:
68
Reaction Distance:
NA
Closest Genes:
ABCC2 DNMBP CUTC COX15 ENTPD7

LLM Analysis

Numerator Metabolite Explanation:

Progesterone metabolism, Steroidogenesis6[1], 7[2], 8[3]

Denominator Metabolite Explanation:

Androgen metabolism, Steroidogenesis9[1], 10[2], 11[3]

Ratio Explanation:

The ratio likely reflects the relative hepatic clearance of a progesterone metabolite versus an androgen metabolite via the ABCC2 transporter.3[1], 4[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired ABCC2 function can alter the hepatic efflux of sulfated steroids, changing their plasma ratio.3[1] This transporter dysfunction is also a direct cause of cholestasis, leading to elevated liver enzymes (GGT, AST, ALT), as seen in conditions like Dubin-Johnson syndrome.12[2], 13[3], 14[4], 15[5]

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