3-hydroxyoctanoylcarnitine (1) to acetylcarnitine (c2)

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 acetylcarnitine (c2)
Metabolite Accession: GCST90199669
Name: acetylcarnitine (c2)
Hmdb Id: HMDB0000201
Super Pathway: NA
Sub Pathway: NA
Inchikey: RDHQFKQIGNGIED

Associated Genomic Regions

Region: rs12356193

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:
10
Beta (Ratio):
0.214
Position:
61413353
SE (Ratio):
0.017
Effect Allele:
G
Z-score (Ratio):
12.420
Reference Allele:
A
-log10(P):
-79.879
MAF:
0.166
Beta (Num):
0.016
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.199
SE (Den):
0.020
No CNV overlap
rQTL cluster:
74
Reaction Distance:
NA
Closest Genes:
SLC16A9 CCDC6 FAM13C C10orf40 ANK3

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation

Denominator Metabolite Explanation:

Fatty acid oxidation, Krebs cycle

Ratio Explanation:

The ratio of 3-hydroxyoctanoylcarnitine to acetylcarnitine likely reflects incomplete fatty acid beta-oxidation relative to acetyl-CoA production and utilization.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

SLC16A9 variants impact carnitine transport, altering fatty acid metabolism and leading to changes in uric acid excretion, which is associated with gout.1[1], 4[2], 5[3], 6[4], 2[5], 7[6]

Phenotype Driver:

Gene-centric:SLC16A9

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