isobutyrylcarnitine (c4) to 3-methylglutarylcarnitine (2)

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

Structure of 3-methylglutarylcarnitine (2)
Metabolite Accession: GCST90199971
Name: 3-methylglutarylcarnitine (2)
Hmdb Id: HMDB0000552
Super Pathway: NA
Sub Pathway: NA
Inchikey: HFCPFJNSBPQJDP

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):
-0.585
Position:
160564476
SE (Ratio):
0.026
Effect Allele:
G
Z-score (Ratio):
-22.659
Reference Allele:
C
-log10(P):
-260.065
MAF:
0.175
Beta (Num):
-0.426
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.158
SE (Den):
0.019
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.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Leucine catabolism, acetyl-CoA diversion.8[1], 9[2], 10[3]

Ratio Explanation:

The ratio reflects the balance between valine/fatty acid oxidation and leucine catabolism/acetyl-CoA status, potentially modulated by SLC22A1-mediated efflux of these acylcarnitines from the liver.3[1], 8[2], 5[3], 4[4]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Reduced SLC22A1 function may alter hepatic acylcarnitine efflux, affecting thiamine-dependent enzymes and shifting energy production from glucose to fatty acids, contributing to dyslipidemia and atherosclerosis.11[1], 12[2], 13[3], 4[4] This aligns with SOD2's role in mitigating oxidative stress from altered mitochondrial metabolism.14[5], 15[6], 16[7], 17[8]

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