nervonoylcarnitine (c24:1)* to glutarylcarnitine (c5-dc)

Numerator Metabolite

Metabolite Accession: GCST90200143
Name: nervonoylcarnitine (c24:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of glutarylcarnitine (c5-dc)
Metabolite Accession: GCST90199799
Name: glutarylcarnitine (c5-dc)
Hmdb Id: HMDB0013130
Super Pathway: NA
Sub Pathway: NA
Inchikey: NXJAXUYOQLTISD

Associated Genomic Regions

Region: rs1799822

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):
0.387
Position:
53679229
SE (Ratio):
0.026
Effect Allele:
G
Z-score (Ratio):
15.069
Reference Allele:
A
-log10(P):
-116.473
MAF:
0.228
Beta (Num):
0.140
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
-0.247
SE (Den):
0.018
No CNV overlap
rQTL cluster:
162
Reaction Distance:
NA
Closest Genes:
CPT2 C1orf123 MAGOH LRP8 SLC1A7

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism/oxidation.1[1]

Denominator Metabolite Explanation:

Amino acid metabolism.5[1], 6[2], 7[3]

Ratio Explanation:

Reduced CPT2 function likely impairs long-chain fatty acid oxidation, increasing nervonoylcarnitine, while glutarylcarnitine metabolism remains unaffected, altering their ratio.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CPT2 missense variants decrease its enzymatic activity, impairing long-chain fatty acid oxidation and leading to an accumulation of acylcarnitines like nervonoylcarnitine.2[1], 4[2] This disruption in fatty acid metabolism is associated with myopathic phenotypes, and in severe cases, liver and heart problems.8[3], 9[4], 10[5]

Phenotype Driver:

Gene-centric:CPT2

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