dihomo-linolenate (20:3n3 or n6) to dodecadienoate (12:2)*

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

Metabolite Accession: GCST90200190
Name: dodecadienoate (12:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs61896141

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.195
Position:
61556039
SE (Ratio):
0.018
Effect Allele:
C
Z-score (Ratio):
11.022
Reference Allele:
A
-log10(P):
-63.375
MAF:
0.179
Beta (Num):
0.149
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.046
SE (Den):
0.020
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

Region: rs151154986

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Clumped rQTL variant

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SNP Summary

Chr:
14
Beta (Ratio):
0.642
Position:
74040136
SE (Ratio):
0.040
Effect Allele:
A
Z-score (Ratio):
16.220
Reference Allele:
G
-log10(P):
-134.557
MAF:
0.030
Beta (Num):
0.038
Novel Locus:
No
SE (Num):
0.044
Beta (Den):
-0.605
SE (Den):
0.044
No CNV overlap
rQTL cluster:
44
Reaction Distance:
NA
Closest Genes:
ACOT2 HEATR4 ACOT4 ACOT1 ACOT6

LLM Analysis

Numerator Metabolite Explanation:

Polyunsaturated fatty acid biosynthesis1[1], 3[2]

Denominator Metabolite Explanation:

Fatty acid metabolism/beta-oxidation4[1], 5[2]

Ratio Explanation:

This ratio reflects FADS1/FADS2 desaturase activity, producing the long-chain numerator (dihomo-linolenate), relative to the metabolism or breakdown of medium-chain fatty acids like the denominator (dodecadienoate).

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1 alter enzyme activity, impacting polyunsaturated fatty acid (PUFA) levels.6[1], 7[2] This dysregulation of lipid metabolism affects inflammatory responses and skin barrier integrity, contributing to inflammatory skin conditions like seborrhoeic and infective dermatitis, and altered systemic lipid profiles (LDL, HDL, TG).8[3], 9[4], 10[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