cis-3,4-methyleneheptanoylcarnitine to methylsuccinoylcarnitine

Numerator Metabolite

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

Denominator Metabolite

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

Associated Genomic Regions

Region: rs662138

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Clumped rQTL variant

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SNP Summary

Chr:
6
Beta (Ratio):
-0.406
Position:
160564476
SE (Ratio):
0.029
Effect Allele:
G
Z-score (Ratio):
-14.033
Reference Allele:
C
-log10(P):
-101.338
MAF:
0.175
Beta (Num):
-0.245
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.160
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.4[1], 5[2]

Denominator Metabolite Explanation:

Fatty acid and amino acid metabolism.6[1], 7[2], 8[3]

Ratio Explanation:

The ratio may reflect alterations in mitochondrial fatty acid oxidation and amino acid metabolism, influenced by mitochondrial oxidative stress managed by SOD2.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

SOD2 dysfunction can lead to mitochondrial oxidative stress, a known contributor to ischemic heart disease and atherosclerosis.1[1], 2[2], 9[3], 10[4] Altered carnitine metabolism, potentially influenced by SOD2 activity, is linked to these cardiovascular phenotypes, which are also associated with lipoprotein metabolism disorders and high LDL-cholesterol.11[5], 12[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