3-hydroxydecanoylcarnitine to myristoleoylcarnitine (c14:1)*

Numerator Metabolite

Structure of 3-hydroxydecanoylcarnitine
Metabolite Accession: GCST90200246
Name: 3-hydroxydecanoylcarnitine
Hmdb Id: HMDB0061636
Super Pathway: NA
Sub Pathway: NA
Inchikey: VCRSQDIROUELAR

Denominator Metabolite

Structure of myristoleoylcarnitine (c14:1)*
Metabolite Accession: GCST90199979
Name: myristoleoylcarnitine (c14:1)*
Hmdb Id: HMDB0240588
Super Pathway: NA
Sub Pathway: NA
Inchikey: ABVVZYXTZLEOHP

Associated Genomic Regions

Region: rs6839534

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:
4
Beta (Ratio):
0.087
Position:
159637995
SE (Ratio):
0.011
Effect Allele:
A
Z-score (Ratio):
8.073
Reference Allele:
C
-log10(P):
-34.913
MAF:
0.293
Beta (Num):
0.031
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.056
SE (Den):
0.016
No CNV overlap
rQTL cluster:
118
Reaction Distance:
NA
Closest Genes:
PPID ETFDH C4orf46 FNIP2 RXFP1

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation.4[1], 5[2]

Denominator Metabolite Explanation:

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

Ratio Explanation:

This ratio compares a hydroxylated to an unsaturated acylcarnitine, both fatty acid oxidation intermediates; an altered ratio may reflect impaired ETFDH activity and beta-oxidation flux.8[1], 9[2], 10[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

No phenotype data provided. However, pathogenic variants in ETFDH disrupt fatty acid and amino acid metabolism, causing Glutaric Aciduria Type II with a characteristic acylcarnitine profile.8[1], 11[2], 12[3]

Phenotype Driver:

none

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