(s)-3-hydroxybutyrylcarnitine to caproate (6:0)

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 caproate (6:0)
Metabolite Accession: GCST90200450
Name: caproate (6:0)
Hmdb Id: HMDB0000535
Super Pathway: NA
Sub Pathway: NA
Inchikey: FUZZWVXGSFPDMH

Associated Genomic Regions

Region: rs7533888

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):
0.332
Position:
76160449
SE (Ratio):
0.022
Effect Allele:
C
Z-score (Ratio):
14.803
Reference Allele:
A
-log10(P):
-112.490
MAF:
0.306
Beta (Num):
0.145
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.187
SE (Den):
0.017
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM SLC44A5 RABGGTB MSH4 ASB17

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid oxidation, ketone metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Medium-chain fatty acid beta-oxidation.7[1], 8[2]

Ratio Explanation:

Reflects ACADM-mediated fatty acid oxidation efficiency; impaired function alters the balance between caproate (substrate-related) and (s)-3-hydroxybutyrylcarnitine (byproduct).9[1], 10[2], 4[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic evidence (pQTL, MR) strongly implicates ACADM variants in altering this fatty acid oxidation ratio, reflecting metabolic efficiency. No associated phenotype was provided for analysis.

Phenotype Driver:

none

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