3-methylglutarylcarnitine (2) to adipoylcarnitine (c6-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 adipoylcarnitine (c6-dc)
Metabolite Accession: GCST90200018
Name: adipoylcarnitine (c6-dc)
Hmdb Id: HMDB0061677
Super Pathway: NA
Sub Pathway: NA
Inchikey: BSVHAXJKBCWVDA

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):
-0.386
Position:
53674542
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
-17.461
Reference Allele:
G
-log10(P):
-155.529
MAF:
0.227
Beta (Num):
-0.141
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.246
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, acetyl-CoA metabolism.7[1], 8[2]

Denominator Metabolite Explanation:

Fatty acid omega-oxidation.

Ratio Explanation:

Impaired CPT2 function disrupts mitochondrial fatty acid oxidation, leading to accumulation of acylcarnitines from alternative pathways like omega-oxidation (adipoylcarnitine) and leucine catabolism (3-methylglutarylcarnitine).7[1], 9[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

none

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