adipoylcarnitine (c6-dc) to butyrylcarnitine (c4)

Numerator Metabolite

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

Denominator Metabolite

Structure of butyrylcarnitine (c4)
Metabolite Accession: GCST90200673
Name: butyrylcarnitine (c4)
Hmdb Id: HMDB0002013
Super Pathway: NA
Sub Pathway: NA
Inchikey: QWYFHHGCZUCMBN

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):
0.361
Position:
160564476
SE (Ratio):
0.026
Effect Allele:
G
Z-score (Ratio):
14.001
Reference Allele:
C
-log10(P):
-100.883
MAF:
0.175
Beta (Num):
0.161
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.200
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:

Fatty acid omega-oxidation

Denominator Metabolite Explanation:

Fatty acid beta-oxidation5[1], 6[2], 7[3]

Ratio Explanation:

An elevated ratio of adipoylcarnitine (omega-oxidation) to butyrylcarnitine (beta-oxidation) suggests impaired mitochondrial beta-oxidation, leading to upregulation of alternative fatty acid metabolism pathways.8[1]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

The pQTL-associated gene, SOD2, is a key mitochondrial antioxidant.1[1], 2[2], 3[3], 4[4] Reduced SOD2 function can cause oxidative stress and mitochondrial dysfunction, which is a known driver of dyslipidemia and ischaemic heart disease.9[5], 10[6], 11[7], 12[8] The altered acylcarnitine ratio reflects this metabolic disruption.

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