pimeloylcarnitine/3-methyladipoylcarnitine (c7-dc) to Hexanoylcarnitine

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 hexanoylcarnitine (c6)
Metabolite Accession: GCST90199668
Name: hexanoylcarnitine (c6)
Hmdb Id: HMDB0000756
Super Pathway: NA
Sub Pathway: NA
Inchikey: VVPRQWTYSNDTEA

Associated Genomic Regions

Region: rs662138

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:
6
Beta (Ratio):
0.341
Position:
160564476
SE (Ratio):
0.027
Effect Allele:
G
Z-score (Ratio):
12.631
Reference Allele:
C
-log10(P):
-82.537
MAF:
0.179
Beta (Num):
0.207
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.134
SE (Den):
0.020
No CNV overlap
rQTL cluster:
97
Reaction Distance:
NA
Closest Genes:
SLC22A1 SLC22A2 IGF2R SLC22A3 MAS1

LLM Analysis

Numerator Metabolite Explanation:

Dicarboxylic fatty acid metabolism3[1]

Denominator Metabolite Explanation:

Fatty acid metabolism, beta-oxidation4[1], 5[2], 6[3]

Ratio Explanation:

This ratio may reflect altered mitochondrial fatty acid oxidation and oxidative stress, where SOD2 dysfunction could lead to accumulation of lipid peroxidation byproducts.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

SOD2 dysfunction can lead to mitochondrial oxidative stress, impairing cardiac bioenergetics and promoting lipid peroxidation.7[1], 8[2] This altered metabolic state, reflected by the pimeloylcarnitine/hexanoylcarnitine ratio, is associated with an increased risk for atherosclerosis and ischemic heart disease.9[3]

Phenotype Driver:

Gene-centric:SOD2

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