3-hydroxyhexanoate to (s)-3-hydroxybutyrylcarnitine

Numerator Metabolite

Structure of 3-hydroxyhexanoate
Metabolite Accession: GCST90200012
Name: 3-hydroxyhexanoate
Hmdb Id: HMDB0061652,HMDB0010718
Super Pathway: NA
Sub Pathway: NA
Inchikey: HPMGFDVTYHWBAG

Denominator Metabolite

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

Associated Genomic Regions

Region: rs57674198

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):
-0.138
Position:
151876073
SE (Ratio):
0.014
Effect Allele:
C
Z-score (Ratio):
-9.656
Reference Allele:
T
-log10(P):
-49.128
MAF:
0.291
Beta (Num):
-0.080
Novel Locus:
Yes ✔️
SE (Num):
0.017
Beta (Den):
0.058
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 metabolism.4[1], 5[2], 6[3], 7[4], 8[5]

Denominator Metabolite Explanation:

Ketogenesis, fatty acid transport.9[1], 10[2], 11[3], 12[4], 13[5]

Ratio Explanation:

The ratio may reflect the balance between mitochondrial fatty acid breakdown, where THEM4 is active, and the transport of ketone body precursors.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Altered THEM4 activity could impact mitochondrial fatty acid metabolism. This might lead to inflammation or changes in the gut microbiome, which are implicated in the development of diverticular disease, a condition characterized by pouches in the colon.14[1], 15[2], 16[3], 17[4]

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