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

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 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

Associated Genomic Regions

Region: rs662138

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
6
Beta (Ratio):
-0.633
Position:
160564476
SE (Ratio):
0.027
Effect Allele:
G
Z-score (Ratio):
-23.749
Reference Allele:
C
-log10(P):
-285.414
MAF:
0.175
Beta (Num):
-0.426
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.207
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.3[1]

Denominator Metabolite Explanation:

Fatty acid omega-oxidation.4[1]

Ratio Explanation:

The ratio reflects the balance between valine and fatty acid metabolism, potentially influenced by hepatic acylcarnitine export via SLC22A1.1[1], 3[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Variants in SLC22A1 may alter hepatic carnitine transport, affecting systemic lipid balance.1[1], 5[2], 6[3] Concurrently, SOD2 dysfunction, linked to the phenotype, impairs mitochondrial lipid metabolism and increases oxidative stress, collectively contributing to lipoprotein disorders and ischaemic heart disease.7[4], 8[5], 9[6]

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