glycolithocholate sulfate* to glycolithocholate

Numerator Metabolite

Structure of glycolithocholate sulfate*
Metabolite Accession: GCST90199811
Name: glycolithocholate sulfate*
Hmdb Id: HMDB0002639
Super Pathway: NA
Sub Pathway: NA
Inchikey: FHXBAFXQVZOILS

Denominator Metabolite

Structure of glycolithocholate
Metabolite Accession: GCST90199689
Name: glycolithocholate
Hmdb Id: HMDB00698
Super Pathway: NA
Sub Pathway: NA
Inchikey: XBSQTYHEGZTYJE

Associated Genomic Regions

Region: rs62129966

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.186
Position:
48374950
SE (Ratio):
0.024
Effect Allele:
A
Z-score (Ratio):
-7.770
Reference Allele:
C
-log10(P):
-32.476
MAF:
0.161
Beta (Num):
-0.076
Novel Locus:
Yes ✔️
SE (Num):
0.021
Beta (Den):
0.110
SE (Den):
0.022
No CNV overlap
rQTL cluster:
7
Reaction Distance:
1.0
Closest Genes:
SULT2A1 TPRX2P CRX TPRX1 SEPW1

LLM Analysis

Numerator Metabolite Explanation:

Secondary bile acid metabolism

Denominator Metabolite Explanation:

Secondary bile acid metabolism

Ratio Explanation:

The ratio reflects the conversion of glycolithocholate to glycolithocholate sulfate, a detoxification reaction catalyzed by the SULT2A1 enzyme.1[1], 4[2]

Ratio Evidence:

canonical reaction catalyzed by the enzyme

Gene Ratio Phenotype Relationship:

Genetic variants in SULT2A1 affect its enzymatic activity, altering the sulfation and detoxification of glycolithocholate.1[1], 4[2] Reduced sulfation is associated with an increased risk of cholelithiasis (gallstones), a phenotype linked to SULT2A1 in GWAS.5[3], 6[4], 7[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