ximenoylcarnitine (c26:1)* to stearoylcarnitine (c18)

Numerator Metabolite

Metabolite Accession: GCST90200149
Name: ximenoylcarnitine (c26:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of stearoylcarnitine (c18)
Metabolite Accession: GCST90199743
Name: stearoylcarnitine (c18)
Hmdb Id: HMDB0000848
Super Pathway: NA
Sub Pathway: NA
Inchikey: FNPHNLNTJNMAEE

Associated Genomic Regions

Region: rs603424

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
10
Beta (Ratio):
-0.191
Position:
102075479
SE (Ratio):
0.020
Effect Allele:
A
Z-score (Ratio):
-9.337
Reference Allele:
G
-log10(P):
-46.058
MAF:
0.176
Beta (Num):
-0.087
Novel Locus:
Yes ✔️
SE (Num):
0.020
Beta (Den):
0.103
SE (Den):
0.020
No CNV overlap
rQTL cluster:
67
Reaction Distance:
NA
Closest Genes:
PKD2L1 BLOC1S2 SCD CWF19L1 CHUK

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation, lipid metabolism.9[1], 10[2]

Denominator Metabolite Explanation:

Fatty acid metabolism, mitochondrial beta-oxidation.11[1], 12[2]

Ratio Explanation:

This ratio may reflect altered substrate preference or efficiency of CPT1A or CPT2, with ximenoylcarnitine being a very-long-chain and stearoylcarnitine a long-chain acylcarnitine.13[1], 14[2], 15[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Variants in CPT1A can alter fatty acid oxidation, affecting lipid profiles.3[1], 4[2], 6[3] This metabolic disruption is linked to an increased risk for hypercholesterolemia and coronary atherosclerosis.16[4], 17[5], 18[6], 19[7]

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