3-hydroxybutyrate to tetradecanedioate (c14-dc)

Numerator Metabolite

Structure of 3-hydroxybutyrate (bhba)
Metabolite Accession: GCST90200367
Name: 3-hydroxybutyrate (bhba)
Hmdb Id: HMDB0000011
Super Pathway: NA
Sub Pathway: NA
Inchikey: WHBMMWSBFZVSSR

Denominator Metabolite

Structure of tetradecanedioate (c14-dc)
Metabolite Accession: GCST90199806
Name: tetradecanedioate (c14-dc)
Hmdb Id: HMDB0000872
Super Pathway: NA
Sub Pathway: NA
Inchikey: HQHCYKULIHKCEB

Associated Genomic Regions

Region: rs12132488

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):
0.219
Position:
47389613
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
10.194
Reference Allele:
C
-log10(P):
-54.517
MAF:
0.128
Beta (Num):
0.058
Novel Locus:
No
SE (Num):
0.023
Beta (Den):
-0.161
SE (Den):
0.023
No CNV overlap
rQTL cluster:
163
Reaction Distance:
NA
Closest Genes:
CYP4A11 CYP4X1 CYP4B1 CYP4Z1 EFCAB14

LLM Analysis

Numerator Metabolite Explanation:

Ketogenesis, Fatty acid oxidation 3[1]

Denominator Metabolite Explanation:

Fatty acid omega-oxidation 4[1], 5[2]

Ratio Explanation:

The ratio may reflect a shift between primary fatty acid catabolism (beta-oxidation leading to ketones) and alternative pathways like omega-oxidation, potentially modulated by CYP4B1.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Altered CYP4B1 function could impact fatty acid metabolism, leading to changes in triglyceride and bilirubin levels, which are known markers of liver function and lipid homeostasis. Alterations in erythrocyte indices (MCH, MCV) might be secondary to lipid membrane changes or systemic metabolic shifts.

Phenotype Driver:

Gene-centric:CYP4B1

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