lithocholate sulfate (1) to 5alpha-androstan-3alpha,17beta-diol monosulfate (2)

Numerator Metabolite

Metabolite Accession: GCST90200231
Name: lithocholate sulfate (1)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90199983
Name: 5alpha-androstan-3alpha,17beta-diol monosulfate (2)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs62129966

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.471
Position:
48374950
SE (Ratio):
0.027
Effect Allele:
A
Z-score (Ratio):
-17.337
Reference Allele:
C
-log10(P):
-153.362
MAF:
0.160
Beta (Num):
-0.223
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
0.248
SE (Den):
0.017
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Bile acid metabolism.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Androgen and steroid metabolism.2[1], 3[2], 8[3]

Ratio Explanation:

This ratio reflects SULT2A1's relative activity on bile acids (lithocholate) versus androgen metabolites, indicating a balance between detoxification pathways for these different steroid types.1[1], 2[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in SULT2A1 likely alter the sulfation and detoxification of lithocholic acid, a toxic bile acid.9[1], 4[2], 10[3] Impaired detoxification can lead to its accumulation, promoting cholelithiasis (gallstones), cholecystitis, and consequently elevated Alkaline Phosphatase (ALP) levels.9[4], 4[5], 11[6], 12[7]

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