androstenediol (3beta,17beta) disulfate (2) to androstenediol (3alpha, 17alpha) monosulfate (3)

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

Associated Genomic Regions

Region: rs62317895

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Clumped rQTL variant

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SNP Summary

Chr:
4
Beta (Ratio):
-0.199
Position:
69359620
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
-14.430
Reference Allele:
G
-log10(P):
-107.011
MAF:
0.362
Beta (Num):
-0.008
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.190
SE (Den):
0.014
No CNV overlap
rQTL cluster:
124
Reaction Distance:
NA
Closest Genes:
TMPRSS11E UGT2B17 YTHDC1 UGT2B15 TMPRSS11B

Region: rs148982377

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Clumped rQTL variant

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SNP Summary

Chr:
7
Beta (Ratio):
0.855
Position:
99075038
SE (Ratio):
0.035
Effect Allele:
C
Z-score (Ratio):
24.483
Reference Allele:
T
-log10(P):
-303.145
MAF:
0.035
Beta (Num):
0.015
Novel Locus:
No
SE (Num):
0.038
Beta (Den):
-0.840
SE (Den):
0.037
No CNV overlap
rQTL cluster:
90
Reaction Distance:
NA
Closest Genes:
ZNF789 ZNF394 ATP5J2 ATP5J2-PTCD1 PTCD1

LLM Analysis

Numerator Metabolite Explanation:

Androgen metabolism, steroid sulfation.7[1], 8[2]

Denominator Metabolite Explanation:

Androgen metabolism, steroid sulfation.7[1], 8[2]

Ratio Explanation:

The ratio reflects differential cellular export of mono- versus di-sulfated androstenediol, a process potentially mediated by the transporter ABCC2.3[1], 5[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired ABCC2 function alters hepatic and renal clearance of substrates like steroid conjugates, contributing to elevated liver enzymes, dyslipidemia, and potentially kidney stone formation, which aligns with the observed phenotypes.3[1], 9[2], 10[3], 11[4], 12[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