pimeloylcarnitine/3-methyladipoylcarnitine (c7-dc) to glutarylcarnitine (c5-dc)

Numerator 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

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: rs1134688

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):
0.348
Position:
53681699
SE (Ratio):
0.022
Effect Allele:
G
Z-score (Ratio):
15.696
Reference Allele:
T
-log10(P):
-126.173
MAF:
0.229
Beta (Num):
0.100
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.248
SE (Den):
0.018
No CNV overlap
rQTL cluster:
162
Reaction Distance:
NA
Closest Genes:
C1orf123 CPT2 MAGOH LRP8 SLC1A7

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid omega-oxidation.6[1]

Denominator Metabolite Explanation:

Amino acid (lysine, tryptophan) catabolism.7[1], 8[2]

Ratio Explanation:

Reduced CPT2 function disrupts beta-oxidation, causing accumulation of various acylcarnitines like pimeloylcarnitine, altering its ratio to glutarylcarnitine from separate amino acid pathways.7[1], 9[2], 10[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

No phenotype was provided, so a causal link between the CPT2 variant, the altered pimeloylcarnitine/glutarylcarnitine ratio, and a clinical outcome 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