phenylacetylcarnitine to adipoylcarnitine (c6-dc)

Numerator Metabolite

Metabolite Accession: GCST90199993
Name: phenylacetylcarnitine
Hmdb Id: HMDB0341372
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of adipoylcarnitine (c6-dc)
Metabolite Accession: GCST90200018
Name: adipoylcarnitine (c6-dc)
Hmdb Id: HMDB0061677
Super Pathway: NA
Sub Pathway: NA
Inchikey: BSVHAXJKBCWVDA

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):
-0.325
Position:
160564476
SE (Ratio):
0.027
Effect Allele:
G
Z-score (Ratio):
-12.212
Reference Allele:
C
-log10(P):
-77.306
MAF:
0.175
Beta (Num):
-0.165
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.161
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:

Phenylalanine metabolism, fatty acid metabolism.6[1], 7[2]

Denominator Metabolite Explanation:

Fatty acid metabolism (dicarboxylate).8[1], 9[2]

Ratio Explanation:

This ratio may reflect a balance between phenylalanine/fatty acid metabolism and dicarboxylic acid metabolism, potentially influenced by mitochondrial oxidative state.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

SOD2 dysregulation can increase mitochondrial oxidative stress, impacting lipid metabolism.10[1], 11[2] This may alter phenylacetylcarnitine and adipoylcarnitine levels, contributing to the observed hypercholesterolemia and lipoprotein disorders.12[3], 13[4], 14[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