5alpha-androstan-3beta,17beta-diol disulfate to androsterone glucuronide

Numerator Metabolite

Metabolite Accession: GCST90199835
Name: 5alpha-androstan-3beta,17beta-diol disulfate
Hmdb Id: HMDB00493
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of androsterone glucuronide
Metabolite Accession: GCST90200688
Name: androsterone glucuronide
Hmdb Id: HMDB0002829
Super Pathway: NA
Sub Pathway: NA
Inchikey: VFUIRAVTUVCQTF

Associated Genomic Regions

Region: rs62129966

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.308
Position:
48374950
SE (Ratio):
0.021
Effect Allele:
A
Z-score (Ratio):
-14.970
Reference Allele:
C
-log10(P):
-114.988
MAF:
0.160
Beta (Num):
-0.137
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
0.170
SE (Den):
0.018
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Steroid sulfation3[1], 4[2]

Denominator Metabolite Explanation:

Androgen metabolism, Glucuronidation5[1], 6[2]

Ratio Explanation:

The ratio of 5alpha-androstan-3beta,17beta-diol disulfate to androsterone glucuronide reflects the balance between sulfation and glucuronidation pathways in androgen catabolism, influenced by SULT2A1 activity.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in SULT2A1 altering its function can modify steroid sulfation, affecting bile acid composition and increasing the risk of cholelithiasis and cholecystitis, which is consistent with the observed pQTL colocalization and known role of SULT2A1 in gallstone disease.7[1], 8[2], 9[3]

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