carnitine C18:2 to arachidonoylcarnitine (c20:4)

Numerator Metabolite

Structure of linoleoylcarnitine (c18:2)*
Metabolite Accession: GCST90199916
Name: linoleoylcarnitine (c18:2)*
Hmdb Id: HMDB0006469
Super Pathway: NA
Sub Pathway: NA
Inchikey: MJLXQSQYKZWZCB

Denominator Metabolite

Structure of arachidonoylcarnitine (c20:4)
Metabolite Accession: GCST90200150
Name: arachidonoylcarnitine (c20:4)
Hmdb Id: HMDB0006455
Super Pathway: NA
Sub Pathway: NA
Inchikey: RBFQHRALHSUPIA

Associated Genomic Regions

Region: rs2229738

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:
11
Beta (Ratio):
-0.268
Position:
68562328
SE (Ratio):
0.024
Effect Allele:
T
Z-score (Ratio):
-10.972
Reference Allele:
C
-log10(P):
-62.819
MAF:
0.070
Beta (Num):
-0.030
Novel Locus:
No
SE (Num):
0.029
Beta (Den):
0.238
SE (Den):
0.029
No CNV overlap
rQTL cluster:
57
Reaction Distance:
NA
Closest Genes:
CPT1A MTL5 MRPL21 GAL IGHMBP2

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid beta-oxidation, Acylcarnitine transport.7[1], 8[2]

Denominator Metabolite Explanation:

Fatty acid beta-oxidation, Arachidonic acid metabolism.7[1], 9[2]

Ratio Explanation:

This ratio reflects the activity of FADS1/FADS2 enzymes, which convert the precursor linoleic acid (C18:2) to the product arachidonic acid (C20:4).4[1], 10[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variants in the FADS gene cluster alter the activity of desaturase enzymes, influencing the balance of polyunsaturated fatty acids.4[1] This imbalance is associated with altered blood lipid profiles (hypercholesterolemia) and an increased risk for Type 2 diabetes.11[2], 12[3], 13[4], 14[5]

Phenotype Driver:

Gene-centric:FADS1

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