pimeloylcarnitine/3-methyladipoylcarnitine (c7-dc) to 3-hydroxyoctanoate

Numerator Metabolite

Structure of pimeloylcarnitine/3-methyladipoylcarnitine (c7-dc)
Metabolite Accession: GCST90200101
Name: pimeloylcarnitine/3-methyladipoylcarnitine (c7-dc)
Hmdb Id: HMDB0013328
Super Pathway: NA
Sub Pathway: NA
Inchikey: NTBUXPPQHCFLOM

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: rs28415528

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):
0.223
Position:
151879761
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
9.897
Reference Allele:
G
-log10(P):
-51.500
MAF:
0.320
Beta (Num):
0.104
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
-0.119
SE (Den):
0.016
No CNV overlap
rQTL cluster:
155
Reaction Distance:
NA
Closest Genes:
THEM4 THEM5 C2CD4D RORC S100A10

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid omega-oxidation.5[1]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation.6[1], 7[2]

Ratio Explanation:

The ratio may reflect altered fatty acid flux, where THEM4 activity shifts metabolism from beta-oxidation (denominator) to omega-oxidation (numerator).

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in THEM4 likely alters fatty acid metabolism and inflammatory responses in the colon, contributing to diverticular disease risk.8[1], 9[2], 10[3] The ratio is a biomarker for this dysregulation.

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