eicosenoylcarnitine (c20:1)* to 3-hydroxyoctanoate

Numerator Metabolite

Structure of eicosenoylcarnitine (c20:1)*
Metabolite Accession: GCST90200148
Name: eicosenoylcarnitine (c20:1)*
Hmdb Id: HMDB0240746
Super Pathway: NA
Sub Pathway: NA
Inchikey: PVOQPLSKYNZHOT

Denominator Metabolite

Structure of 3-hydroxyoctanoate
Metabolite Accession: GCST90199680
Name: 3-hydroxyoctanoate
Hmdb Id: HMDB0001954
Super Pathway: NA
Sub Pathway: NA
Inchikey: NDPLAKGOSZHTPH

Associated Genomic Regions

Region: rs28415528

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):
0.183
Position:
151879761
SE (Ratio):
0.019
Effect Allele:
A
Z-score (Ratio):
9.562
Reference Allele:
G
-log10(P):
-48.211
MAF:
0.319
Beta (Num):
0.064
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.119
SE (Den):
0.016
No CNV overlap
rQTL cluster:
155
Reaction Distance:
NA
Closest Genes:
THEM4 THEM5 C2CD4D RORC S100A10

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid oxidation, carnitine shuttle.5[1], 6[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation.7[1]

Ratio Explanation:

An elevated ratio may reflect altered THEM4 activity, leading to changes in the mitochondrial pool of long-chain acyl-CoAs relative to medium-chain beta-oxidation intermediates.3[1], 7[2], 4[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

No phenotype was provided; the THEM4 gene is associated with a metabolite ratio reflecting altered fatty acid oxidation, but a specific disease link is not established here.

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