3-hydroxyoctanoylcarnitine (1) to 3-hydroxyoctanoate

Numerator Metabolite

Structure of 3-hydroxyoctanoylcarnitine (1)
Metabolite Accession: GCST90200272
Name: 3-hydroxyoctanoylcarnitine (1)
Hmdb Id: HMDB0061634
Super Pathway: NA
Sub Pathway: NA
Inchikey: LUBMSOHGUAAXAM

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: rs2337685

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):
0.150
Position:
151923919
SE (Ratio):
0.016
Effect Allele:
T
Z-score (Ratio):
9.446
Reference Allele:
C
-log10(P):
-47.092
MAF:
0.315
Beta (Num):
0.033
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.116
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 β-oxidation, carnitine shuttle 5[1]

Denominator Metabolite Explanation:

Fatty acid β-oxidation

Ratio Explanation:

6[1], 7[2], 8[3] This ratio may reflect the balance between fatty acid transport into mitochondria for oxidation and the hydrolysis of acyl-CoAs by THEM4.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

A higher ratio, influenced by THEM4 activity, may alter mitochondrial fatty acid metabolism. Altered lipid metabolism has been linked to diverticular disease, and changes in red blood cell membrane lipids can affect MCHC, though a direct causal link is not established.

Phenotype Driver:

9[1], 10[2], 11[3], 12[4] Gene-centric:THEM4

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