3-hydroxyoctanoylcarnitine (1) to cis-4-decenoylcarnitine (c10:1)

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 cis-4-decenoylcarnitine (c10:1)
Metabolite Accession: GCST90199880
Name: cis-4-decenoylcarnitine (c10:1)
Hmdb Id: HMDB0013205
Super Pathway: NA
Sub Pathway: NA
Inchikey: GOOOCIIXFLVRAG

Associated Genomic Regions

Region: rs61797339

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Clumped rQTL variant

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SNP Summary

Chr:
1
Beta (Ratio):
0.395
Position:
76189946
SE (Ratio):
0.015
Effect Allele:
T
Z-score (Ratio):
27.097
Reference Allele:
G
-log10(P):
-370.641
MAF:
0.307
Beta (Num):
0.003
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.391
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):
0.191
Position:
159629814
SE (Ratio):
0.016
Effect Allele:
C
Z-score (Ratio):
12.268
Reference Allele:
A
-log10(P):
-77.989
MAF:
0.264
Beta (Num):
0.045
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
-0.147
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.8[1], 9[2], 10[3], 11[4]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation.12[1], 13[2], 14[3], 15[4]

Ratio Explanation:

The ratio of 3-hydroxyoctanoylcarnitine to cis-4-decenoylcarnitine reflects altered ACADM activity, causing dysregulation between different intermediates within the medium-chain fatty acid oxidation pathway.13[1]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

No phenotype data provided. Genetic variants in ACADM alter its enzymatic function, impacting fatty acid oxidation and causing metabolic disorders, but a specific link cannot be established without phenotype information.7[1], 16[2], 17[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