arachidonoylcarnitine (c20:4) to dihomo-linolenoylcarnitine (c20:3n3 or 6)*

Numerator Metabolite

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

Denominator Metabolite

Metabolite Accession: GCST90200139
Name: dihomo-linolenoylcarnitine (c20:3n3 or 6)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs174528

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:
11
Beta (Ratio):
-0.369
Position:
61543499
SE (Ratio):
0.009
Effect Allele:
C
Z-score (Ratio):
-40.003
Reference Allele:
T
-log10(P):
-804.035
MAF:
0.368
Beta (Num):
-0.236
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.133
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
MYRF TMEM258 FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid metabolism; polyunsaturated fatty acid biosynthesis.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Fatty acid metabolism; polyunsaturated fatty acid biosynthesis.4[1], 5[2], 6[3]

Ratio Explanation:

The ratio of product (arachidonoylcarnitine) to precursor (dihomo-linolenoylcarnitine) reflects the enzymatic activity of FADS1, a key regulator of polyunsaturated fatty acid synthesis.7[1], 8[2]

Ratio Evidence:

canonical reaction catalyzed by the enzyme

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1 alter enzyme activity, impacting the balance of pro-inflammatory (from arachidonic acid) and anti-inflammatory fatty acids. This dysregulation of lipid metabolism and inflammation contributes to phenotypes like cholelithiasis, hypercholesterolemia, and cardiovascular disease.9[1], 10[2], 11[3]

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