laurylcarnitine to Hexanoylcarnitine

Numerator Metabolite

Structure of laurylcarnitine (c12)
Metabolite Accession: GCST90199750
Name: laurylcarnitine (c12)
Hmdb Id: HMDB000225
Super Pathway: NA
Sub Pathway: NA
Inchikey: FUJLYHJROOYKRA

Denominator Metabolite

Structure of hexanoylcarnitine (c6)
Metabolite Accession: GCST90199668
Name: hexanoylcarnitine (c6)
Hmdb Id: HMDB0000756
Super Pathway: NA
Sub Pathway: NA
Inchikey: VVPRQWTYSNDTEA

Associated Genomic Regions

Region: rs61797339

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:
1
Beta (Ratio):
0.385
Position:
76189946
SE (Ratio):
0.012
Effect Allele:
T
Z-score (Ratio):
31.749
Reference Allele:
G
-log10(P):
-507.670
MAF:
0.308
Beta (Num):
-0.045
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.430
SE (Den):
0.015
No CNV overlap
rQTL cluster:
161
Reaction Distance:
NA
Closest Genes:
ACADM RABGGTB MSH4 SLC44A5 ASB17

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism/oxidation.5[1]

Denominator Metabolite Explanation:

Fatty acid metabolism/oxidation.6[1], 7[2]

Ratio Explanation:

The ratio reflects altered activity of the ACADM enzyme, which metabolizes both C6 and C12 acylcarnitines, indicating a disruption in medium-chain fatty acid oxidation.8[1], 9[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced ACADM enzyme function alters the laurylcarnitine to hexanoylcarnitine ratio, disrupting fatty acid oxidation. This impaired lipid metabolism is linked to disorders of lipoprotein metabolism and changes in triglyceride and cholesterol levels, which are associated phenotypes.3[1], 10[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