cis-3,4-methyleneheptanoylcarnitine to 3-methylglutarylcarnitine (2)

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 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):
-0.404
Position:
160564476
SE (Ratio):
0.026
Effect Allele:
G
Z-score (Ratio):
-15.410
Reference Allele:
C
-log10(P):
-121.694
MAF:
0.175
Beta (Num):
-0.245
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:

Fatty acid metabolism.10[1], 11[2], 12[3]

Denominator Metabolite Explanation:

Leucine catabolism, fatty acid metabolism.13[1], 14[2], 15[3], 16[4]

Ratio Explanation:

An elevated ratio suggests altered mitochondrial fatty acid oxidation, potentially influenced by SLC22A1-mediated transport of carnitine derivatives.6[1], 13[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Reduced SLC22A1 function may alter hepatic carnitine and acylcarnitine levels, impacting fatty acid oxidation and contributing to dyslipidemia and increased ischemic heart disease risk.3[1], 4[2], 7[3]

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