3b-hydroxy-5-cholenoic acid to glycocholate glucuronide (1)

Numerator Metabolite

Structure of 3b-hydroxy-5-cholenoic acid
Metabolite Accession: GCST90199933
Name: 3b-hydroxy-5-cholenoic acid
Hmdb Id: HMDB0000308
Super Pathway: NA
Sub Pathway: NA
Inchikey: HIAJCGFYHIANNA

Denominator Metabolite

Metabolite Accession: GCST90200092
Name: glycocholate glucuronide (1)
Hmdb Id: HMDB0341324
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs62129968

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:
19
Beta (Ratio):
0.288
Position:
48383542
SE (Ratio):
0.031
Effect Allele:
A
Z-score (Ratio):
9.255
Reference Allele:
C
-log10(P):
-45.294
MAF:
0.167
Beta (Num):
0.160
Novel Locus:
No
SE (Num):
0.023
Beta (Den):
-0.128
SE (Den):
0.030
No CNV overlap
rQTL cluster:
7
Reaction Distance:
NA
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 BSPH1

LLM Analysis

Numerator Metabolite Explanation:

Bile acid biosynthesis.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Bile acid glucuronidation.7[1], 8[2], 9[3]

Ratio Explanation:

The ratio reflects SULT2A1 activity, where lower levels may decrease 3b-hydroxy-5-cholenoic acid sulfation, potentially shunting it towards other metabolic pathways, while affecting glycocholate glucuronide levels.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced SULT2A1 activity is associated with impaired bile acid detoxification, cholestasis, and an increased risk of cholelithiasis (gallstones).10[1], 11[2], 12[3], 13[4], 14[5] This can lead to elevated alkaline phosphatase, a marker of liver and bile duct issues, and cholecystitis.

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