taurocholenate sulfate* to 3-carboxy-4-methyl-5-pentyl-2-furanpropionate (3-cmpfp)**

Numerator Metabolite

Structure of taurocholenate sulfate*
Metabolite Accession: GCST90199839
Name: taurocholenate sulfate*
Hmdb Id: HMDB0241922
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZYJZBFYRVKLOAA

Denominator Metabolite

Structure of 3-carboxy-4-methyl-5-pentyl-2-furanpropionate (3-cmpfp)**
Metabolite Accession: GCST90200172
Name: 3-carboxy-4-methyl-5-pentyl-2-furanpropionate (3-cmpfp)**
Hmdb Id: HMDB0061643
Super Pathway: NA
Sub Pathway: NA
Inchikey: RIJDKRLRDVBUHJ

Associated Genomic Regions

Region: rs112997117

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:
10
Beta (Ratio):
-0.396
Position:
101619779
SE (Ratio):
0.045
Effect Allele:
C
Z-score (Ratio):
-8.851
Reference Allele:
T
-log10(P):
-41.587
MAF:
0.060
Beta (Num):
-0.186
Novel Locus:
Yes ✔️
SE (Num):
0.033
Beta (Den):
0.210
SE (Den):
0.032
No CNV overlap
rQTL cluster:
68
Reaction Distance:
NA
Closest Genes:
ABCC2 DNMBP CUTC COX15 ENTPD7

LLM Analysis

Numerator Metabolite Explanation:

Secondary bile acid metabolism, sulfation.8[1], 9[2], 10[3]

Denominator Metabolite Explanation:

Furanoid fatty acid metabolism.11[1], 12[2]

Ratio Explanation:

The ratio likely reflects altered hepatic clearance, where reduced ABCC2 function decreases taurocholenate sulfate efflux while having a lesser or indirect effect on 3-cmpfp levels.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced ABCC2 transporter function, indicated by the missense variant, likely impairs the biliary excretion of substances like taurocholenate sulfate, leading to cholestasis. This condition is reflected by elevated liver enzymes (GGT, AST, ALT), which are established markers for liver injury and cholestasis.1[1], 13[2], 14[3], 15[4]

Phenotype Driver:

Gene-centric:ABCC2

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