pregnenetriol sulfate* to pregnenediol disulfate (c21h34o8s2)*

Numerator Metabolite

Structure of pregnenetriol sulfate*
Metabolite Accession: GCST90200241
Name: pregnenetriol sulfate*
Hmdb Id: HMDB0241920
Super Pathway: NA
Sub Pathway: NA
Inchikey: DENIQPHQUIGDJZ

Denominator Metabolite

Metabolite Accession: GCST90199840
Name: pregnenediol disulfate (c21h34o8s2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs55804858

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.229
Position:
101595065
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
11.128
Reference Allele:
C
-log10(P):
-64.555
MAF:
0.059
Beta (Num):
0.034
Novel Locus:
No
SE (Num):
0.027
Beta (Den):
-0.195
SE (Den):
0.029
No CNV overlap
rQTL cluster:
68
Reaction Distance:
NA
Closest Genes:
ABCC2 DNMBP CUTC COX15 ENTPD7

Region: rs28898605

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:
2
Beta (Ratio):
-0.173
Position:
234625494
SE (Ratio):
0.017
Effect Allele:
G
Z-score (Ratio):
-10.252
Reference Allele:
A
-log10(P):
-55.110
MAF:
0.088
Beta (Num):
-0.184
Novel Locus:
No
SE (Num):
0.023
Beta (Den):
-0.011
SE (Den):
0.024
No CNV overlap
rQTL cluster:
136
Reaction Distance:
NA
Closest Genes:
UGT1A10 UGT1A5 UGT1A8 UGT1A6 UGT1A7

LLM Analysis

Numerator Metabolite Explanation:

Steroidogenesis, Sulfation.12[1], 13[2], 14[3], 15[4]

Denominator Metabolite Explanation:

Steroidogenesis, Sulfation.16[1], 17[2], 18[3], 19[4]

Ratio Explanation:

This ratio may reflect the balance of steroid hormone metabolism and conjugation, where altered ABCC2 or UGT activity could impact their relative levels.20[1], 21[2], 22[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired ABCC2 function due to genetic variants can disrupt the biliary excretion of conjugated compounds like bilirubin and steroid sulfates. This leads to their accumulation, causing cholestatic liver injury and subsequent elevation of liver enzymes (GGT, AST, ALT) and total bilirubin.23[1], 24[2], 25[3]

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