phenylacetylcarnitine to succinylcarnitine (c4dc)

Numerator Metabolite

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

Denominator Metabolite

Structure of succinylcarnitine (c4-dc)
Metabolite Accession: GCST90199848
Name: succinylcarnitine (c4-dc)
Hmdb Id: HMDB0061717
Super Pathway: NA
Sub Pathway: NA
Inchikey: HAEVNYBCYZZDFL

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):
-0.293
Position:
160564476
SE (Ratio):
0.027
Effect Allele:
G
Z-score (Ratio):
-10.844
Reference Allele:
C
-log10(P):
-61.419
MAF:
0.175
Beta (Num):
-0.165
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.129
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 and fatty acid metabolism.3[1], 4[2]

Denominator Metabolite Explanation:

TCA cycle, fatty acid oxidation.5[1]

Ratio Explanation:

The ratio reflects the balance between phenylalanine/fatty acid metabolism and TCA cycle activity, potentially indicating mitochondrial stress or dysfunction.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

The pQTL colocalized gene, SOD2, is central to managing mitochondrial oxidative stress, which is strongly implicated in the pathogenesis of hypercholesterolemia.6[1], 7[2], 8[3] Altered SOD2 function can lead to dysregulated lipid metabolism, manifesting as the observed phenotype and altered carnitine profiles.1[4], 9[5], 10[6]

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