branched-chain, straight-chain, or cyclopropyl 12:1 fatty acid* to octanoylcarnitine (c8)

Numerator Metabolite

Metabolite Accession: GCST90200249
Name: branched-chain, straight-chain, or cyclopropyl 12:1 fatty acid*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

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

Associated Genomic Regions

Region: rs151154986

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:
14
Beta (Ratio):
-0.516
Position:
74040136
SE (Ratio):
0.038
Effect Allele:
A
Z-score (Ratio):
-13.676
Reference Allele:
G
-log10(P):
-96.363
MAF:
0.029
Beta (Num):
-0.480
Novel Locus:
No
SE (Num):
0.044
Beta (Den):
0.036
SE (Den):
0.044
No CNV overlap
rQTL cluster:
44
Reaction Distance:
NA
Closest Genes:
ACOT2 HEATR4 ACOT4 ACOT1 ACOT6

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation.4[1], 5[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation.6[1], 7[2]

Ratio Explanation:

This ratio reflects MCAD (ACADM) enzyme efficiency; impaired function leads to the accumulation of its substrate, octanoyl-CoA, and its carnitine ester, octanoylcarnitine.2[1], 8[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

No phenotype associations were provided; however, genetic variants in ACADM are known to cause MCAD deficiency, a disorder of fatty acid oxidation.9[1], 10[2]

Phenotype Driver:

none

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