dihomo-linolenate (20:3n3 or n6) to linolenate [alpha or gamma; (18:3n3 or 6)]

Numerator Metabolite

Structure of dihomo-linolenate (20:3n3 or n6)
Metabolite Accession: GCST90199820
Name: dihomo-linolenate (20:3n3 or n6)
Hmdb Id: HMDB0002925
Super Pathway: NA
Sub Pathway: NA
Inchikey: AHANXAKGNAKFSK

Denominator 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

Associated Genomic Regions

Region: rs61897793

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.147
Position:
61599347
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
10.310
Reference Allele:
G
-log10(P):
-55.715
MAF:
0.181
Beta (Num):
0.147
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
8.68e-04
SE (Den):
0.019
No CNV overlap
rQTL cluster:
62
Reaction Distance:
5.0
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 FADS3

Region: rs12928099

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Clumped rQTL variant

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SNP Summary

Chr:
16
Beta (Ratio):
0.103
Position:
15150505
SE (Ratio):
0.012
Effect Allele:
A
Z-score (Ratio):
8.542
Reference Allele:
C
-log10(P):
-38.871
MAF:
0.291
Beta (Num):
0.100
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.003
SE (Den):
0.016
No CNV overlap
rQTL cluster:
34
Reaction Distance:
5.0
Closest Genes:
PDXDC1 NTAN1 RRN3 NPIPA1 NOMO1

LLM Analysis

Numerator Metabolite Explanation:

Polyunsaturated fatty acid (PUFA) biosynthesis.3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Polyunsaturated fatty acid (PUFA) biosynthesis.6[1], 7[2], 8[3]

Ratio Explanation:

The ratio of dihomo-linolenate to linolenate reflects the enzymatic efficiency of fatty acid desaturation and elongation, which is primarily governed by the FADS genes.1[1], 9[2], 10[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered FADS gene activity modifies the polyunsaturated fatty acid (PUFA) profile, reflected by the ratio. This dysregulation of PUFA-derived inflammatory mediators likely influences the risk for inflammatory conditions like dermatitis and sinusitis, and systemic lipid/hematological traits.11[1], 12[2], 13[3], 14[4], 15[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