3-methylglutarylcarnitine (2) to pimeloylcarnitine/3-methyladipoylcarnitine (c7-dc)

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

Structure of pimeloylcarnitine/3-methyladipoylcarnitine (c7-dc)
Metabolite Accession: GCST90200101
Name: pimeloylcarnitine/3-methyladipoylcarnitine (c7-dc)
Hmdb Id: HMDB0013328
Super Pathway: NA
Sub Pathway: NA
Inchikey: NTBUXPPQHCFLOM

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):
-0.241
Position:
53674542
SE (Ratio):
0.023
Effect Allele:
A
Z-score (Ratio):
-10.444
Reference Allele:
G
-log10(P):
-57.120
MAF:
0.227
Beta (Num):
-0.141
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.101
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:

Leucine catabolism, fatty acid metabolism.6[1], 7[2]

Denominator Metabolite Explanation:

Fatty acid metabolism, dicarboxylic acid metabolism.8[1], 9[2]

Ratio Explanation:

A higher ratio suggests impaired fatty acid oxidation due to reduced CPT2 activity, leading to the accumulation of upstream acylcarnitines.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

No associated phenotype was provided, so a direct link between the CPT2 gene, the metabolite ratio, and a phenotype cannot 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