pimeloylcarnitine/3-methyladipoylcarnitine (c7-dc) to butyrylcarnitine (c4)

Numerator Metabolite

Structure of pimeloylcarnitine/3-methyladipoylcarnitine (c7-dc)
Metabolite Accession: GCST90200101
Name: pimeloylcarnitine/3-methyladipoylcarnitine (c7-dc)
Hmdb Id: HMDB0013328
Super Pathway: NA
Sub Pathway: NA
Inchikey: NTBUXPPQHCFLOM

Denominator Metabolite

Structure of butyrylcarnitine (c4)
Metabolite Accession: GCST90200673
Name: butyrylcarnitine (c4)
Hmdb Id: HMDB0002013
Super Pathway: NA
Sub Pathway: NA
Inchikey: QWYFHHGCZUCMBN

Associated Genomic Regions

Region: rs662138

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:
6
Beta (Ratio):
0.407
Position:
160564476
SE (Ratio):
0.030
Effect Allele:
G
Z-score (Ratio):
13.725
Reference Allele:
C
-log10(P):
-97.036
MAF:
0.179
Beta (Num):
0.207
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.200
SE (Den):
0.020
No CNV overlap
rQTL cluster:
97
Reaction Distance:
NA
Closest Genes:
SLC22A1 SLC22A2 IGF2R SLC22A3 MAS1

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism (dicarboxylate), beta-oxidation.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

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

Ratio Explanation:

This ratio may reflect altered mitochondrial fatty acid oxidation and transport, with SLC22A1 potentially influencing the clearance of these carnitine esters.1[1], 2[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced SLC22A1 function is associated with higher total and LDL cholesterol.9[1], 10[2] Altered acylcarnitine transport by SLC22A1 could contribute to dyslipidemia and increase the risk of coronary atherosclerosis, a phenotype also linked to SOD2 variants which modulates oxidative stress.11[3], 12[4]

Phenotype Driver:

Gene-centric:SLC22A1

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