3-hydroxyoctanoylcarnitine (1) to myristoleoylcarnitine (c14:1)*

Numerator Metabolite

Structure of 3-hydroxyoctanoylcarnitine (1)
Metabolite Accession: GCST90200272
Name: 3-hydroxyoctanoylcarnitine (1)
Hmdb Id: HMDB0061634
Super Pathway: NA
Sub Pathway: NA
Inchikey: LUBMSOHGUAAXAM

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: rs8396

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
4
Beta (Ratio):
0.092
Position:
159630817
SE (Ratio):
0.012
Effect Allele:
C
Z-score (Ratio):
7.808
Reference Allele:
T
-log10(P):
-32.777
MAF:
0.294
Beta (Num):
0.037
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.054
SE (Den):
0.016
No CNV overlap
rQTL cluster:
118
Reaction Distance:
NA
Closest Genes:
PPID ETFDH C4orf46 RXFP1 FNIP2

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation

Denominator Metabolite Explanation:

Fatty acid beta-oxidation

Ratio Explanation:

An elevated ratio suggests a bottleneck in the beta-oxidation of medium-chain fatty acids relative to monounsaturated long-chain fatty acids, possibly due to ETFDH dysfunction.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

ETFDH mutations impair fatty acid oxidation, leading to an accumulation of certain acylcarnitines.2[1], 3[2], 4[3] While some reports link ETFDH mutations to short stature, the direct impact of this specific ratio on height is not established.5[4], 6[5], 7[6]

Phenotype Driver:

Gene-centric:ETFDH

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