octanoylcarnitine (c8) to 3-hydroxydecanoate

Numerator Metabolite

Structure of octanoylcarnitine (c8)
Metabolite Accession: GCST90199720
Name: octanoylcarnitine (c8)
Hmdb Id: HMDB0000791
Super Pathway: NA
Sub Pathway: NA
Inchikey: CXTATJFJDMJMIY

Denominator Metabolite

Structure of 3-hydroxydecanoate
Metabolite Accession: GCST90199693
Name: 3-hydroxydecanoate
Hmdb Id: HMDB0002203
Super Pathway: NA
Sub Pathway: NA
Inchikey: FYSSBMZUBSBFJL

Associated Genomic Regions

Region: rs6684114

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:
1
Beta (Ratio):
0.229
Position:
151928715
SE (Ratio):
0.016
Effect Allele:
G
Z-score (Ratio):
14.496
Reference Allele:
A
-log10(P):
-107.973
MAF:
0.316
Beta (Num):
0.024
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.205
SE (Den):
0.016
No CNV overlap
rQTL cluster:
155
Reaction Distance:
NA
Closest Genes:
S100A10 THEM4 S100A11 THEM5 C2CD4D

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation.5[1], 6[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation.7[1], 8[2]

Ratio Explanation:

A higher ratio may indicate reduced ACADM activity, leading to an accumulation of octanoylcarnitine and decreased levels of its downstream metabolite, 3-hydroxydecanoate.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced ACADM activity, indicated by an elevated octanoylcarnitine to 3-hydroxydecanoate ratio, may lead to impaired fatty acid oxidation and energy production. While no specific phenotype is provided, this metabolic disruption is characteristic of inborn errors of metabolism like MCAD deficiency, which can manifest with hypoglycemia and lethargy.4[1], 9[2]

Phenotype Driver:

Gene-centric:ACADM

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