cis-3,4-methyleneheptanoylcarnitine to pimeloylcarnitine/3-methyladipoylcarnitine (c7-dc)

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 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

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SNP Summary

Chr:
6
Beta (Ratio):
-0.452
Position:
160564476
SE (Ratio):
0.028
Effect Allele:
G
Z-score (Ratio):
-15.873
Reference Allele:
C
-log10(P):
-128.977
MAF:
0.175
Beta (Num):
-0.245
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:

Xenobiotic metabolism, Fatty acid β-oxidation. 6[1], 7[2], 8[3]

Denominator Metabolite Explanation:

Fatty acid metabolism, amino acid degradation. 9[1], 10[2], 11[3], 12[4]

Ratio Explanation:

The ratio reflects the balance between a xenobiotic-derived acylcarnitine and acylcarnitines from endogenous metabolism, potentially modulated by SLC22A1 transport activity. 4[1], 8[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in SLC22A1 may alter the transport of these acylcarnitines, impacting mitochondrial function and lipid metabolism. 4[1], 5[2]This could contribute to dyslipidemia and increase the risk of ischemic heart disease and coronary atherosclerosis, phenotypes associated with this locus. 13[3], 14[4], 15[5], 16[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