3-hydroxyoctanoylcarnitine (2) to acetylcarnitine (c2)

Numerator Metabolite

Structure of 3-hydroxyoctanoylcarnitine (2)
Metabolite Accession: GCST90200278
Name: 3-hydroxyoctanoylcarnitine (2)
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):
0.201
Position:
61413353
SE (Ratio):
0.017
Effect Allele:
G
Z-score (Ratio):
11.784
Reference Allele:
A
-log10(P):
-72.127
MAF:
0.166
Beta (Num):
0.002
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-oxidation5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, TCA cycle shuttle5[1], 8[2]

Ratio Explanation:

This ratio reflects the balance between a medium-chain fatty acid oxidation intermediate and the acetyl-CoA pool, potentially altered by SLC16A9 transport activity.1[1], 9[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Variants in the SLC16A9 transporter associate with gout and uric acid levels.2[1], 10[2] The altered acylcarnitine ratio suggests that SLC16A9's function impacts fatty acid oxidation, which is metabolically linked to the purine metabolism that drives the gout phenotype.11[3], 12[4]

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