cis 3,4-methyleneheptanoate to glycocholenate sulfate*

Numerator Metabolite

Metabolite Accession: GCST90200248
Name: cis-3,4-methyleneheptanoate
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of glycocholenate sulfate*
Metabolite Accession: GCST90199841
Name: glycocholenate sulfate*
Hmdb Id: HMDB0242178
Super Pathway: NA
Sub Pathway: NA
Inchikey: OTUHTIDAACSDJD

Associated Genomic Regions

Region: rs1047891

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:
2
Beta (Ratio):
-0.175
Position:
211540507
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
-7.970
Reference Allele:
C
-log10(P):
-34.076
MAF:
0.310
Beta (Num):
-0.083
Novel Locus:
Yes ✔️
SE (Num):
0.017
Beta (Den):
0.092
SE (Den):
0.017
No CNV overlap
rQTL cluster:
140
Reaction Distance:
NA
Closest Genes:
CPS1 LANCL1 MYL1 ACADL KANSL1L

LLM Analysis

Numerator Metabolite Explanation:

Fatty Acid Metabolism5[1]

Denominator Metabolite Explanation:

Bile Acid Biosynthesis6[1], 7[2]

Ratio Explanation:

The ratio may reflect a shift in hepatic metabolism, where impaired urea cycle function (CPS1) alters both fatty acid and bile acid homeostasis.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Impaired CPS1 function can lead to liver and kidney dysfunction.8[1], 9[2] The accumulation of glycocholenate sulfate is associated with cholelithiasis and chronic kidney disease, potentially linking the CPS1 variant to these phenotypes through altered bile acid metabolism.10[3], 11[4], 12[5], 13[6]

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