eicosapentaenoate (epa; 20:5n3) to dihomo-linolenoylcarnitine (c20:3n3 or 6)*

Numerator Metabolite

Structure of eicosapentaenoate (epa; 20:5n3)
Metabolite Accession: GCST90200349
Name: eicosapentaenoate (epa; 20:5n3)
Hmdb Id: HMDB0001999
Super Pathway: NA
Sub Pathway: NA
Inchikey: JAZBEHYOTPTENJ

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: rs28456

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):
-0.355
Position:
61589481
SE (Ratio):
0.022
Effect Allele:
G
Z-score (Ratio):
-16.426
Reference Allele:
A
-log10(P):
-137.936
MAF:
0.309
Beta (Num):
-0.200
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.155
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Omega-3 fatty acid biosynthesis

Denominator Metabolite Explanation:

Fatty acid metabolism, acylcarnitine transport

Ratio Explanation:

This ratio reflects the efficiency of FADS-mediated desaturation, converting precursor C20:3 fatty acids into downstream polyunsaturated fatty acids like eicosapentaenoate (EPA).

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1 alters polyunsaturated fatty acid metabolism, which changes the balance of pro- and anti-inflammatory lipid mediators.3[1], 4[2], 5[3] This dysregulation likely contributes to the associated inflammatory (asthma, dermatitis) and metabolic (cholelithiasis, hypercholesterolemia, T2D) phenotypes.5[4], 6[5], 7[6]

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