propionylcarnitine (c3) to pimeloylcarnitine/3-methyladipoylcarnitine (c7-dc)

Numerator Metabolite

Structure of propionylcarnitine (c3)
Metabolite Accession: GCST90199708
Name: propionylcarnitine (c3)
Hmdb Id: HMDB0000824
Super Pathway: NA
Sub Pathway: NA
Inchikey: UFAHZIUFPNSHSL

Denominator 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

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):
-0.371
Position:
160564476
SE (Ratio):
0.028
Effect Allele:
G
Z-score (Ratio):
-13.182
Reference Allele:
C
-log10(P):
-89.690
MAF:
0.175
Beta (Num):
-0.164
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
0.207
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:

BCAA, odd-chain fatty acid oxidation.

Denominator Metabolite Explanation:

Fatty acid omega-oxidation, leucine degradation.

Ratio Explanation:

The ratio may reflect mitochondrial stress, where SOD2 dysfunction alters the balance between branched-chain amino acid/odd-chain fatty acid oxidation and dicarboxylic acid metabolism.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

SOD2 genetic variants can impair mitochondrial antioxidant defense, leading to oxidative stress. This dysfunction manifests as altered mitochondrial metabolism (ratio) and promotes atherosclerosis and dyslipidemia.

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