nervonoylcarnitine (c24:1)* to palmitoylcarnitine (c16)

Numerator Metabolite

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

Denominator Metabolite

Structure of palmitoylcarnitine (c16)
Metabolite Accession: GCST90199666
Name: palmitoylcarnitine (c16)
Hmdb Id: HMDB0000222
Super Pathway: NA
Sub Pathway: NA
Inchikey: XOMRRQXKHMYMOC

Associated Genomic Regions

Region: rs2229738

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:
11
Beta (Ratio):
0.276
Position:
68562328
SE (Ratio):
0.031
Effect Allele:
T
Z-score (Ratio):
8.895
Reference Allele:
C
-log10(P):
-41.981
MAF:
0.071
Beta (Num):
0.198
Novel Locus:
Yes ✔️
SE (Num):
0.030
Beta (Den):
-0.078
SE (Den):
0.030
No CNV overlap
rQTL cluster:
57
Reaction Distance:
NA
Closest Genes:
CPT1A MTL5 MRPL21 GAL IGHMBP2

LLM Analysis

Numerator Metabolite Explanation:

Fatty Acid Metabolism, Beta-oxidation.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Fatty Acid Metabolism, Beta-oxidation.7[1], 8[2]

Ratio Explanation:

This ratio reflects CPT1A enzymatic activity, where altered function can disrupt the balance between very-long-chain (C24:1) and long-chain (C16) fatty acid transport into mitochondria.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CPT1A dysfunction alters hepatic fatty acid oxidation, impacting the synthesis and clearance of lipoproteins and blood cell components.9[1], 10[2] This leads to changes in triglyceride and HDL levels, and can affect red blood cell (MCV, MCH) and platelet counts.11[3], 12[4]

Phenotype Driver:

Gene-centric:CPT1A

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