lithocholate sulfate (1) to 5alpha-pregnan-3beta,20alpha-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: GCST90199854
Name: 5alpha-pregnan-3beta,20alpha-diol monosulfate (2)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs2547233

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.388
Position:
48384026
SE (Ratio):
0.027
Effect Allele:
A
Z-score (Ratio):
-14.205
Reference Allele:
G
-log10(P):
-103.775
MAF:
0.164
Beta (Num):
-0.225
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
0.163
SE (Den):
0.021
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 BSPH1

LLM Analysis

Numerator Metabolite Explanation:

Bile acid metabolism.3[1], 4[2]

Denominator Metabolite Explanation:

Progesterone metabolism.5[1]

Ratio Explanation:

The ratio reflects the relative activity of SULT2A1 on bile acids versus steroid hormones, indicating a preference for sulfating lithocholate over pregnanediol.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in SULT2A1 are associated with cholelithiasis.6[1], 7[2], 8[3] SULT2A1 detoxifies lithocholate, a toxic bile acid, by sulfation.9[4], 10[5] Reduced SULT2A1 activity could lead to increased lithocholate levels, contributing to gallstone formation.11[6], 12[7], 13[8]

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