cis-3,4-methyleneheptanoylcarnitine to 3-hydroxyoctanoate

Numerator Metabolite

Metabolite Accession: GCST90200266
Name: cis-3,4-methyleneheptanoylcarnitine
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 3-hydroxyoctanoate
Metabolite Accession: GCST90199680
Name: 3-hydroxyoctanoate
Hmdb Id: HMDB0001954
Super Pathway: NA
Sub Pathway: NA
Inchikey: NDPLAKGOSZHTPH

Associated Genomic Regions

Region: rs12239945

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:
1
Beta (Ratio):
0.212
Position:
151975094
SE (Ratio):
0.021
Effect Allele:
G
Z-score (Ratio):
10.284
Reference Allele:
A
-log10(P):
-55.446
MAF:
0.306
Beta (Num):
0.092
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
-0.120
SE (Den):
0.017
No CNV overlap
rQTL cluster:
155
Reaction Distance:
NA
Closest Genes:
S100A10 S100A11 TCHHL1 THEM4 TCHH

LLM Analysis

Numerator Metabolite Explanation:

Fatty Acid Metabolism.6[1], 7[2], 8[3]

Denominator Metabolite Explanation:

Fatty Acid Metabolism.9[1], 10[2], 11[3]

Ratio Explanation:

A higher ratio may reflect altered mitochondrial fatty acid oxidation, where cis-3,4-methyleneheptanoylcarnitine production or transport is increased relative to 3-hydroxyoctanoate breakdown.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

The eQTL for *THEM4* suggests its expression is linked to the ratio. *THEM4* is an acyl-CoA thioesterase involved in fatty acid metabolism.1[1], 3[2] An altered ratio of fatty acid metabolites may influence intestinal cell energy and membrane composition, potentially contributing to the development of diverticular disease.

Phenotype Driver:

Gene-centric:THEM4

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