linolenate [alpha or gamma; (18:3n3 or 6)] to stearidonate (18:4n3)

Numerator Metabolite

Structure of linolenate [alpha or gamma; (18:3n3 or 6)]
Metabolite Accession: GCST90199748
Name: linolenate [alpha or gamma; (18:3n3 or 6)]
Hmdb Id: HMDB0003073,HMDB0001388
Super Pathway: NA
Sub Pathway: NA
Inchikey: DTOSIQBPPRVQHS

Denominator Metabolite

Structure of stearidonate (18:4n3)
Metabolite Accession: GCST90199721
Name: stearidonate (18:4n3)
Hmdb Id: HMDB0006547
Super Pathway: NA
Sub Pathway: NA
Inchikey: JIWBIWFOSCKQMA

Associated Genomic Regions

Region: rs174567

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):
0.130
Position:
61593005
SE (Ratio):
0.010
Effect Allele:
G
Z-score (Ratio):
12.682
Reference Allele:
A
-log10(P):
-83.190
MAF:
0.346
Beta (Num):
0.012
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.118
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
1.0
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Omega-3/Omega-6 fatty acid metabolism.3[1]

Denominator Metabolite Explanation:

Omega-3 fatty acid metabolism.3[1]

Ratio Explanation:

This ratio reflects FADS2 (delta-6-desaturase) activity, representing the conversion of the substrate alpha-linolenic acid (18:3n3) to the product stearidonate (18:4n3).4[1], 3[2], 5[3]

Ratio Evidence:

canonical reaction catalyzed by the enzyme

Gene Ratio Phenotype Relationship:

Genetic variation in FADS genes alters FADS2 activity, which impacts polyunsaturated fatty acid metabolism.2[1], 6[2] This dysregulation is linked to altered lipid profiles and inflammatory responses, contributing to phenotypes like cholelithiasis, dyslipidemia (hypercholesterolemia, high triglycerides), and inflammatory conditions like asthma and sinusitis.6[3], 7[4], 8[5]

Phenotype Driver:

Gene-centric:FADS2

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