3-hydroxydecanoylcarnitine to acetylcarnitine (c2)

Numerator Metabolite

Structure of 3-hydroxydecanoylcarnitine
Metabolite Accession: GCST90200246
Name: 3-hydroxydecanoylcarnitine
Hmdb Id: HMDB0061636
Super Pathway: NA
Sub Pathway: NA
Inchikey: VCRSQDIROUELAR

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):
0.226
Position:
61413353
SE (Ratio):
0.018
Effect Allele:
G
Z-score (Ratio):
12.640
Reference Allele:
A
-log10(P):
-82.658
MAF:
0.166
Beta (Num):
0.027
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.5[1], 6[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, amino acid metabolism.5[1], 7[2], 8[3]

Ratio Explanation:

The ratio of 3-hydroxydecanoylcarnitine to acetylcarnitine may reflect altered mitochondrial fatty acid oxidation and carnitine transport influenced by SLC16A9.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

SLC16A9 variants are associated with altered carnitine transport and uric acid levels.1[1], 2[2], 3[3] Dysregulation of this transporter could impact fatty acid metabolism, reflected in the acylcarnitine ratio, and simultaneously contribute to hyperuricemia and gout, a phenotype also linked to triglyceride metabolism.1[4], 2[5], 9[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