3-methylglutarylcarnitine (2) to butyrylcarnitine (c4)

Numerator Metabolite

Structure of 3-methylglutarylcarnitine (2)
Metabolite Accession: GCST90199971
Name: 3-methylglutarylcarnitine (2)
Hmdb Id: HMDB0000552
Super Pathway: NA
Sub Pathway: NA
Inchikey: HFCPFJNSBPQJDP

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):
0.358
Position:
160564476
SE (Ratio):
0.027
Effect Allele:
G
Z-score (Ratio):
13.381
Reference Allele:
C
-log10(P):
-92.357
MAF:
0.175
Beta (Num):
0.158
Novel Locus:
No
SE (Num):
0.019
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:

Leucine catabolism, mitochondrial acetyl-CoA metabolism.6[1], 7[2], 8[3]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation.9[1], 10[2]

Ratio Explanation:

The ratio reflects a balance between mitochondrial leucine catabolism and fatty acid oxidation; its alteration may indicate mitochondrial dysfunction influenced by antioxidant capacity (SOD2).

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered SOD2 function likely impairs mitochondrial antioxidant capacity, affecting both leucine and fatty acid metabolism, reflected in the acylcarnitine ratio. This mitochondrial dysfunction is a known driver of dyslipidemia and coronary atherosclerosis, linking the gene to the observed phenotypes.11[1], 12[2]

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