(s)-3-hydroxybutyrylcarnitine to octanoylcarnitine (c8)

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 octanoylcarnitine (c8)
Metabolite Accession: GCST90199720
Name: octanoylcarnitine (c8)
Hmdb Id: HMDB0000791
Super Pathway: NA
Sub Pathway: NA
Inchikey: CXTATJFJDMJMIY

Associated Genomic Regions

Region: rs2185152

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):
0.535
Position:
76224010
SE (Ratio):
0.018
Effect Allele:
T
Z-score (Ratio):
29.089
Reference Allele:
C
-log10(P):
-426.689
MAF:
0.308
Beta (Num):
0.145
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.391
SE (Den):
0.016
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid oxidation, ketogenesis.4[1], 5[2]

Denominator Metabolite Explanation:

Fatty acid oxidation.6[1], 7[2], 8[3]

Ratio Explanation:

This ratio reflects ACADM enzyme function; deficiency increases the upstream substrate-derived octanoylcarnitine, a key diagnostic marker, relative to other fatty acid oxidation intermediates.9[1], 10[2], 11[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

No phenotype link was provided. However, pathogenic variants in ACADM are known to cause MCAD deficiency, an inherited metabolic disorder, by altering fatty acid oxidation.1[1], 10[2], 12[3]

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