3-hydroxyoctanoylcarnitine (1) to 3-hydroxylaurate

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-hydroxylaurate
Metabolite Accession: GCST90199700
Name: 3-hydroxylaurate
Hmdb Id: HMDB0000387
Super Pathway: NA
Sub Pathway: NA
Inchikey: MUCMKTPAZLSKTL

Associated Genomic Regions

Region: rs28415528

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.135
Position:
151879761
SE (Ratio):
0.013
Effect Allele:
A
Z-score (Ratio):
10.182
Reference Allele:
G
-log10(P):
-54.392
MAF:
0.318
Beta (Num):
0.030
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.105
SE (Den):
0.016
No CNV overlap
rQTL cluster:
155
Reaction Distance:
NA
Closest Genes:
THEM4 THEM5 C2CD4D RORC S100A10

Region: rs924135

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Clumped rQTL variant

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SNP Summary

Chr:
16
Beta (Ratio):
-0.114
Position:
16123459
SE (Ratio):
0.013
Effect Allele:
A
Z-score (Ratio):
-8.940
Reference Allele:
T
-log10(P):
-42.387
MAF:
0.389
Beta (Num):
-0.099
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
0.015
SE (Den):
0.016
No CNV overlap
rQTL cluster:
33
Reaction Distance:
NA
Closest Genes:
ABCC1 ABCC6 FOPNL MYH11 NOMO3

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid oxidation

Denominator Metabolite Explanation:

Fatty acid metabolism

Ratio Explanation:

The ratio reflects altered mitochondrial beta-oxidation, where THEM4 dysfunction may lead to the accumulation of 3-hydroxyoctanoylcarnitine and impact the downstream metabolism of laurate.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

THEM4's role in fatty acid metabolism links it to this ratio.1[1], 2[2] Altered fatty acid metabolism may contribute to the pathology of diverticular disease, an inflammatory condition, and affect erythrocyte membrane composition, influencing MCH and MCHC.

Phenotype Driver:

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