cis-3,4-methyleneheptanoylcarnitine to n-acetyl-isoputreanine

Numerator Metabolite

Metabolite Accession: GCST90200266
Name: cis-3,4-methyleneheptanoylcarnitine
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of n-acetyl-isoputreanine
Metabolite Accession: GCST90200195
Name: n-acetyl-isoputreanine
Hmdb Id: HMDB0094713
Super Pathway: NA
Sub Pathway: NA
Inchikey: YGIAGXACEXFIDU

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):
-0.384
Position:
160564476
SE (Ratio):
0.028
Effect Allele:
G
Z-score (Ratio):
-13.912
Reference Allele:
C
-log10(P):
-99.638
MAF:
0.175
Beta (Num):
-0.245
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.138
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 metabolism, specifically medium-chain acylcarnitines.4[1], 5[2]

Denominator Metabolite Explanation:

Polyamine metabolism.6[1], 7[2]

Ratio Explanation:

The ratio may reflect a shift in mitochondrial metabolism, where altered fatty acid oxidation (numerator) and polyamine catabolism (denominator) are influenced by mitochondrial oxidative stress.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

SOD2 dysfunction can lead to increased mitochondrial oxidative stress, which is implicated in the pathogenesis of lipid metabolism disorders and coronary artery disease.8[1], 9[2], 10[3], 11[4], 12[5] The altered metabolite ratio may be a downstream consequence of this oxidative stress, contributing to the observed phenotypes.

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