3-hydroxyoctanoylcarnitine (1) to decanoylcarnitine (c10)

Numerator Metabolite

Structure of 3-hydroxyoctanoylcarnitine (1)
Metabolite Accession: GCST90200272
Name: 3-hydroxyoctanoylcarnitine (1)
Hmdb Id: HMDB0061634
Super Pathway: NA
Sub Pathway: NA
Inchikey: LUBMSOHGUAAXAM

Denominator Metabolite

Structure of decanoylcarnitine (c10)
Metabolite Accession: GCST90199722
Name: decanoylcarnitine (c10)
Hmdb Id: HMDB0000651
Super Pathway: NA
Sub Pathway: NA
Inchikey: LZOSYCMHQXPBFU

Associated Genomic Regions

Region: rs4949877

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.302
Position:
76201668
SE (Ratio):
0.013
Effect Allele:
G
Z-score (Ratio):
23.884
Reference Allele:
C
-log10(P):
-288.624
MAF:
0.308
Beta (Num):
0.003
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.299
SE (Den):
0.016
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

Region: rs17843966

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Clumped rQTL variant

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SNP Summary

Chr:
4
Beta (Ratio):
0.231
Position:
159629814
SE (Ratio):
0.013
Effect Allele:
C
Z-score (Ratio):
17.187
Reference Allele:
A
-log10(P):
-150.769
MAF:
0.264
Beta (Num):
0.045
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
-0.186
SE (Den):
0.017
No CNV overlap
rQTL cluster:
118
Reaction Distance:
NA
Closest Genes:
ETFDH PPID C4orf46 RXFP1 FNIP2

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation

Denominator Metabolite Explanation:

Fatty acid beta-oxidation

Ratio Explanation:

An elevated ratio of 3-hydroxyoctanoylcarnitine to decanoylcarnitine may indicate reduced ACADM enzyme activity, leading to incomplete fatty acid oxidation.5[1], 6[2], 7[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced ACADM function impairs the breakdown of medium-chain fatty acids, leading to the accumulation of upstream metabolites like decanoylcarnitine and hydroxylated forms, potentially causing metabolic disease.3[1], 4[2], 8[3]

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