octadecanedioylcarnitine (c18-dc)* to eicosenoylcarnitine (c20:1)*

Numerator Metabolite

Structure of octadecanedioylcarnitine (c18-dc)*
Metabolite Accession: GCST90199992
Name: octadecanedioylcarnitine (c18-dc)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: ULCCGBCYWCYNIC

Denominator Metabolite

Structure of eicosenoylcarnitine (c20:1)*
Metabolite Accession: GCST90200148
Name: eicosenoylcarnitine (c20:1)*
Hmdb Id: HMDB0240746
Super Pathway: NA
Sub Pathway: NA
Inchikey: PVOQPLSKYNZHOT

Associated Genomic Regions

Region: rs2108622

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:
19
Beta (Ratio):
-0.248
Position:
15990431
SE (Ratio):
0.019
Effect Allele:
T
Z-score (Ratio):
-12.728
Reference Allele:
C
-log10(P):
-83.783
MAF:
0.297
Beta (Num):
-0.178
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.070
SE (Den):
0.016
No CNV overlap
rQTL cluster:
10
Reaction Distance:
NA
Closest Genes:
CYP4F2 CYP4F11 OR10H4 OR10H1 OR10H5

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid omega-oxidation.4[1], 6[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation.7[1]

Ratio Explanation:

The ratio of octadecanedioylcarnitine to eicosenoylcarnitine may reflect a shift between omega-oxidation and beta-oxidation, potentially influenced by reduced CYP4F2 activity.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced CYP4F2 activity due to the missense variant alters fatty acid metabolism, specifically omega-oxidation. This dysregulation may contribute to the development of coronary atherosclerosis and ischemic heart disease.8[1], 9[2], 10[3], 11[4]

Phenotype Driver:

Gene-centric:CYP4F2

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