cis-3,4-methyleneheptanoylcarnitine to sebacate (c10-dc)

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 sebacate (c10-dc)
Metabolite Accession: GCST90199718
Name: sebacate (c10-dc)
Hmdb Id: HMDB0000792
Super Pathway: NA
Sub Pathway: NA
Inchikey: CXMXRPHRNRROMY

Associated Genomic Regions

Region: rs2999541

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):
0.194
Position:
151898749
SE (Ratio):
0.022
Effect Allele:
G
Z-score (Ratio):
8.833
Reference Allele:
C
-log10(P):
-41.430
MAF:
0.374
Beta (Num):
0.102
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.092
SE (Den):
0.016
No CNV overlap
rQTL cluster:
155
Reaction Distance:
NA
Closest Genes:
THEM4 S100A10 THEM5 C2CD4D RORC

LLM Analysis

Numerator Metabolite Explanation:

Xenobiotic metabolism, Fatty acid beta-oxidation.2[1], 3[2]

Denominator Metabolite Explanation:

Fatty acid omega-oxidation.4[1]

Ratio Explanation:

The ratio may indicate altered fatty acid metabolism, where THEM4-mediated handling of an unusual fatty acid changes relative to the omega-oxidation pathway.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation at the THEM4 locus, supported by eQTL colocalization, likely alters its expression, modifying intestinal fatty acid metabolism. This metabolic shift, reflected by the ratio, may contribute to the inflammation or mucosal barrier dysfunction underlying diverticular disease.5[1], 6[2]

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