methylsuccinoylcarnitine to butyrylcarnitine (c4)

Numerator Metabolite

Metabolite Accession: GCST90200089
Name: methylsuccinoylcarnitine
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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):
0.360
Position:
160564476
SE (Ratio):
0.025
Effect Allele:
G
Z-score (Ratio):
14.241
Reference Allele:
C
-log10(P):
-104.288
MAF:
0.177
Beta (Num):
0.160
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:

Branched-chain amino acid catabolism, odd-chain fatty acid oxidation.3[1], 4[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation.5[1], 3[2]

Ratio Explanation:

The ratio compares byproducts of BCAA/odd-chain fatty acid catabolism to standard beta-oxidation intermediates, potentially reflecting mitochondrial stress related to SOD2 function.1[1], 6[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in SOD2 likely impairs mitochondrial antioxidant defense, altering mitochondrial fuel metabolism as reflected by the acylcarnitine ratio. This mitochondrial dysfunction is a known driver for dyslipidemia and atherosclerosis, establishing a causal chain from gene to phenotype.7[1], 8[2], 9[3], 6[4]

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