propionylcarnitine (c3) to glutarylcarnitine (c5-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 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: rs662138

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:
6
Beta (Ratio):
-0.263
Position:
160564476
SE (Ratio):
0.025
Effect Allele:
G
Z-score (Ratio):
-10.393
Reference Allele:
C
-log10(P):
-56.586
MAF:
0.175
Beta (Num):
-0.164
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
0.099
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 and fatty acid oxidation.4[1], 5[2]

Denominator Metabolite Explanation:

Lysine and tryptophan catabolism.6[1], 7[2]

Ratio Explanation:

The ratio of propionylcarnitine to glutarylcarnitine may reflect the balance between different mitochondrial amino acid and fatty acid catabolic pathways.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced SOD2 function leads to mitochondrial oxidative stress, a known contributor to atherosclerosis and ischemic heart disease.8[1], 9[2], 10[3] Altered mitochondrial function likely impacts the metabolism of various acylcarnitines, and genes like SLC22A1, also associated with the ratio, transport these metabolites and are implicated in lipid metabolism.11[4], 12[5]

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