etiocholanolone glucuronide to 21-hydroxypregnenolone disulfate

Numerator Metabolite

Structure of etiocholanolone glucuronide
Metabolite Accession: GCST90199964
Name: etiocholanolone glucuronide
Hmdb Id: HMDB0004484
Super Pathway: NA
Sub Pathway: NA
Inchikey: VFUIRAVTUVCQTF

Denominator Metabolite

Structure of 21-hydroxypregnenolone disulfate
Metabolite Accession: GCST90199849
Name: 21-hydroxypregnenolone disulfate
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: CBOVWLYQUCVTFA

Associated Genomic Regions

Region: rs62129966

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
0.225
Position:
48374950
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
10.241
Reference Allele:
C
-log10(P):
-55.003
MAF:
0.162
Beta (Num):
0.066
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
-0.159
SE (Den):
0.020
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

Region: rs2762353

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
-0.212
Position:
25794431
SE (Ratio):
0.016
Effect Allele:
A
Z-score (Ratio):
-13.060
Reference Allele:
G
-log10(P):
-88.081
MAF:
0.444
Beta (Num):
-0.051
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.161
SE (Den):
0.015
No CNV overlap
rQTL cluster:
111
Reaction Distance:
NA
Closest Genes:
SLC17A1 SLC17A4 SLC17A3 HIST1H2BA HIST1H2AA

LLM Analysis

Numerator Metabolite Explanation:

Androgen and estrogen metabolism

Denominator Metabolite Explanation:

Steroidogenesis3[1], 4[2]

Ratio Explanation:

The ratio likely reflects SULT2A1 activity, which is involved in steroid sulfation.5[1], 6[2] Altered SULT2A1 function could impact the balance of steroid hormone clearance.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in SULT2A1 are associated with altered bile acid and steroid metabolism, leading to an increased risk of cholelithiasis.7[1], 8[2], 9[3] The altered ratio of these two steroid metabolites is a downstream biochemical consequence of this genetic predisposition, which is linked to cholelithiasis.7[4], 10[5]

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