3-methylglutarylcarnitine (2) to nervonoylcarnitine (c24:1)*

Numerator Metabolite

Structure of 3-methylglutarylcarnitine (2)
Metabolite Accession: GCST90199971
Name: 3-methylglutarylcarnitine (2)
Hmdb Id: HMDB0000552
Super Pathway: NA
Sub Pathway: NA
Inchikey: HFCPFJNSBPQJDP

Denominator Metabolite

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

Associated Genomic Regions

Region: rs11578832

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):
-0.280
Position:
53674542
SE (Ratio):
0.026
Effect Allele:
A
Z-score (Ratio):
-10.611
Reference Allele:
G
-log10(P):
-58.895
MAF:
0.227
Beta (Num):
-0.141
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.140
SE (Den):
0.019
No CNV overlap
rQTL cluster:
162
Reaction Distance:
NA
Closest Genes:
CPT2 C1orf123 MAGOH LRP8 SLC1A7

LLM Analysis

Numerator Metabolite Explanation:

Leucine catabolism, Acylcarnitine metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Very long-chain fatty acid beta-oxidation.

Ratio Explanation:

A decreased CPT2 function likely impairs the mitochondrial import of nervonoylcarnitine, a very-long-chain acylcarnitine, altering its ratio to other acylcarnitines like 3-methylglutarylcarnitine.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

No phenotype data is provided, therefore no causal link between the CPT2 gene, the metabolite ratio, and a phenotype can be established.

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