taurocholenate sulfate* to sphingomyelin (d18:2/21:0, d16:2/23:0)*

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

Metabolite Accession: GCST90200129
Name: sphingomyelin (d18:2/21:0, d16:2/23:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs1047891

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Clumped rQTL variant

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SNP Summary

Chr:
2
Beta (Ratio):
-0.173
Position:
211540507
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
-8.058
Reference Allele:
C
-log10(P):
-34.793
MAF:
0.310
Beta (Num):
-0.098
Novel Locus:
Yes ✔️
SE (Num):
0.017
Beta (Den):
0.076
SE (Den):
0.014
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Secondary bile acid metabolism.5[1]

Denominator Metabolite Explanation:

Sphingolipid metabolism.6[1], 7[2]

Ratio Explanation:

The ratio of taurocholenate sulfate to sphingomyelin may represent a balance between bile acid metabolism and sphingolipid synthesis, potentially altered by CPS1 dysfunction.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced CPS1 function can cause hyperammonemia, leading to liver and kidney stress.8[1], 9[2] This may alter hepatic bile acid and lipid metabolism, reflected in the ratio, and contribute to the observed risk of cholelithiasis and renal failure phenotypes.10[3], 11[4], 12[5]

Phenotype Driver:

Gene-centric:CPS1

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