(s)-3-hydroxybutyrylcarnitine to 3-hydroxydodecanedioate*

Numerator Metabolite

Structure of (s)-3-hydroxybutyrylcarnitine
Metabolite Accession: GCST90200088
Name: (s)-3-hydroxybutyrylcarnitine
Hmdb Id: HMDB0013127
Super Pathway: NA
Sub Pathway: NA
Inchikey: UEFRDQSMQXDWTO

Denominator Metabolite

Structure of 3-hydroxydodecanedioate*
Metabolite Accession: GCST90199769
Name: 3-hydroxydodecanedioate*
Hmdb Id: HMDB0000413
Super Pathway: NA
Sub Pathway: NA
Inchikey: FYVQCLGZFXHEGL

Associated Genomic Regions

Region: rs999992

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):
0.137
Position:
151996692
SE (Ratio):
0.017
Effect Allele:
C
Z-score (Ratio):
8.047
Reference Allele:
G
-log10(P):
-34.704
MAF:
0.329
Beta (Num):
0.054
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.082
SE (Den):
0.017
No CNV overlap
rQTL cluster:
155
Reaction Distance:
NA
Closest Genes:
S100A11 S100A10 TCHHL1 TCHH THEM4

LLM Analysis

Numerator Metabolite Explanation:

Ketone body metabolism, Fatty acid β-oxidation. 4[1], 5[2]

Denominator Metabolite Explanation:

Fatty acid metabolism, Dicarboxylic acid metabolism. 6[1], 7[2]

Ratio Explanation:

This ratio may reflect the balance between ketone body/fatty acid beta-oxidation and dicarboxylic acid metabolism, potentially influenced by mitochondrial acyl-CoA thioesterase activity.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered THEM4 function could impact mitochondrial fatty acid metabolism. This dysregulation of fatty acid oxidation and a potential increase in oxidative stress may contribute to the mitochondrial dysfunction and inflammation observed in diverticular disease. 8[1], 9[2], 10[3]

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