(s)-3-hydroxybutyrylcarnitine to Hexanoylcarnitine

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 hexanoylcarnitine (c6)
Metabolite Accession: GCST90199668
Name: hexanoylcarnitine (c6)
Hmdb Id: HMDB0000756
Super Pathway: NA
Sub Pathway: NA
Inchikey: VVPRQWTYSNDTEA

Associated Genomic Regions

Region: rs7524467

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
1
Beta (Ratio):
0.576
Position:
76194054
SE (Ratio):
0.017
Effect Allele:
G
Z-score (Ratio):
34.056
Reference Allele:
C
-log10(P):
-583.670
MAF:
0.308
Beta (Num):
0.146
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.430
SE (Den):
0.015
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

Region: rs869452

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
15
Beta (Ratio):
-0.127
Position:
76495088
SE (Ratio):
0.016
Effect Allele:
T
Z-score (Ratio):
-7.777
Reference Allele:
C
-log10(P):
-32.537
MAF:
0.455
Beta (Num):
-0.070
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.058
SE (Den):
0.015
No CNV overlap
rQTL cluster:
37
Reaction Distance:
NA
Closest Genes:
C15orf27 ETFA ISL2 NRG4 SCAPER

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism, Ketone body metabolism.6[1], 7[2]

Denominator Metabolite Explanation:

Fatty acid metabolism.8[1], 9[2]

Ratio Explanation:

ACADM deficiency impairs the breakdown of medium-chain fats like hexanoylcarnitine, leading to its accumulation and potentially altering related pathways like ketone body metabolism.3[1], 10[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Impaired ACADM function disrupts fatty acid oxidation, reflected by an altered acylcarnitine profile. This metabolic dysregulation is a plausible cause for the observed disorders of lipoprotein metabolism and changes in triglyceride and cholesterol levels, as lipids are not being efficiently utilized for energy.3[1], 11[2]

Phenotype Driver:

Gene-centric:ACADM

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