octadecenedioylcarnitine (c18:1-dc)* to (s)-3-hydroxybutyrylcarnitine

Numerator Metabolite

Structure of octadecenedioylcarnitine (c18:1-dc)*
Metabolite Accession: GCST90199970
Name: octadecenedioylcarnitine (c18:1-dc)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: CYPBWZKNUDFJJE

Denominator Metabolite

Structure of (s)-3-hydroxybutyrylcarnitine
Metabolite Accession: GCST90200088
Name: (s)-3-hydroxybutyrylcarnitine
Hmdb Id: HMDB0013127
Super Pathway: NA
Sub Pathway: NA
Inchikey: UEFRDQSMQXDWTO

Associated Genomic Regions

Region: rs62107762

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:
19
Beta (Ratio):
-0.195
Position:
15982538
SE (Ratio):
0.018
Effect Allele:
G
Z-score (Ratio):
-10.892
Reference Allele:
C
-log10(P):
-61.945
MAF:
0.296
Beta (Num):
-0.150
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.044
SE (Den):
0.016
No CNV overlap
rQTL cluster:
10
Reaction Distance:
NA
Closest Genes:
CYP4F2 CYP4F11 OR10H1 OR10H5 OR10H4

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid omega-oxidation.7[1]

Denominator Metabolite Explanation:

Ketone body metabolism, Fatty acid beta-oxidation.8[1], 9[2], 10[3]

Ratio Explanation:

An elevated ratio may indicate increased omega-oxidation (numerator) relative to ketogenesis and beta-oxidation (denominator), potentially influenced by altered CYP4F2 activity.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

The CYP4F2 missense variant can decrease its enzymatic activity, altering fatty acid metabolism.1[1], 2[2], 3[3] This change, reflected in the metabolite ratio, is associated with an increased risk of coronary atherosclerosis and ischemic heart disease.11[4], 12[5], 13[6]

Phenotype Driver:

Gene-centric:CYP4F2

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