5-dodecenoylcarnitine (c12:1) to Hexanoylcarnitine

Numerator Metabolite

Metabolite Accession: GCST90200151
Name: 5-dodecenoylcarnitine (c12:1)
Hmdb Id: HMDB13326
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of hexanoylcarnitine (c6)
Metabolite Accession: GCST90199668
Name: hexanoylcarnitine (c6)
Hmdb Id: HMDB0000756
Super Pathway: NA
Sub Pathway: NA
Inchikey: VVPRQWTYSNDTEA

Associated Genomic Regions

Region: rs662138

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:
6
Beta (Ratio):
0.165
Position:
160564476
SE (Ratio):
0.017
Effect Allele:
G
Z-score (Ratio):
9.871
Reference Allele:
C
-log10(P):
-51.246
MAF:
0.176
Beta (Num):
0.031
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.134
SE (Den):
0.020
No CNV overlap
rQTL cluster:
97
Reaction Distance:
NA
Closest Genes:
SLC22A1 SLC22A2 IGF2R SLC22A3 MAS1

LLM Analysis

Numerator Metabolite Explanation:

fatty acid beta-oxidation

Denominator Metabolite Explanation:

fatty acid beta-oxidation

Ratio Explanation:

An increased ratio of 5-dodecenoylcarnitine (C12:1) to hexanoylcarnitine (C6) suggests reduced efficiency of the ACADM enzyme in metabolizing medium-chain fatty acids.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced ACADM enzyme function, indicated by an elevated C12:1/C6 ratio, leads to an accumulation of unprocessed medium-chain fatty acids.2[1] This disruption in fatty acid metabolism is linked to disorders of lipoprotein metabolism and hypercholesterolemia, likely through downstream effects on lipid synthesis and transport.

Phenotype Driver:

Gene-centric:ACADM

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