cis-3,4-methyleneheptanoylcarnitine to (s)-3-hydroxybutyrylcarnitine

Numerator Metabolite

Metabolite Accession: GCST90200266
Name: cis-3,4-methyleneheptanoylcarnitine
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of (s)-3-hydroxybutyrylcarnitine
Metabolite Accession: GCST90200088
Name: (s)-3-hydroxybutyrylcarnitine
Hmdb Id: HMDB0013127
Super Pathway: NA
Sub Pathway: NA
Inchikey: UEFRDQSMQXDWTO

Associated Genomic Regions

Region: rs71583465

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:
5
Beta (Ratio):
-0.133
Position:
131594628
SE (Ratio):
0.016
Effect Allele:
G
Z-score (Ratio):
-8.469
Reference Allele:
C
-log10(P):
-38.240
MAF:
0.344
Beta (Num):
-0.064
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
0.069
SE (Den):
0.015
No CNV overlap
rQTL cluster:
115
Reaction Distance:
NA
Closest Genes:
PDLIM4 P4HA2 SLC22A4 SLC22A5 C5orf56

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism (medium-chain acylcarnitine).4[1], 5[2]

Denominator Metabolite Explanation:

Ketone body metabolism, fatty acid beta-oxidation.6[1], 7[2]

Ratio Explanation:

The ratio reflects altered carnitine homeostasis; reduced SLC22A5 function likely impairs the transport of both carnitine species, affecting fatty acid and ketone metabolism.8[1], 9[2], 6[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced function of the SLC22A5 carnitine transporter, as suggested by the associated gene, would impair cellular carnitine uptake, leading to altered levels of acylcarnitines.2[1], 9[2], 10[3] This systemic carnitine deficiency can disrupt fatty acid oxidation and is linked to disorders of lipoprotein metabolism.1[4], 11[5], 12[6]

Phenotype Driver:

Gene-centric:SLC22A5

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