isobutyrylcarnitine (c4) to methylsuccinoylcarnitine

Numerator Metabolite

Structure of isobutyrylcarnitine (c4)
Metabolite Accession: GCST90199698
Name: isobutyrylcarnitine (c4)
Hmdb Id: HMDB0000736
Super Pathway: NA
Sub Pathway: NA
Inchikey: LRCNOZRCYBNMEP

Denominator Metabolite

Metabolite Accession: GCST90200089
Name: methylsuccinoylcarnitine
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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):
-0.587
Position:
160564476
SE (Ratio):
0.026
Effect Allele:
G
Z-score (Ratio):
-22.721
Reference Allele:
C
-log10(P):
-261.469
MAF:
0.175
Beta (Num):
-0.426
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.160
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:

Valine catabolism, fatty acid oxidation.4[1]

Denominator Metabolite Explanation:

Leucine, Isoleucine, Valine Metabolism.5[1]

Ratio Explanation:

The ratio of isobutyrylcarnitine to methylsuccinoylcarnitine may reflect the balance between valine catabolism and the degradation of other branched-chain amino acids, potentially influenced by SLC22A1.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Altered SLC22A1 function may impact acylcarnitine transport, including isobutyrylcarnitine, which is associated with coronary artery disease and lipoprotein metabolism disorders.1[1], 6[2], 7[3] This suggests a link between transporter activity, metabolic profile, and cardiovascular health.

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