dihomo-linolenate (20:3n3 or n6) to docosadienoate (22:2n6)

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 docosadienoate (22:2n6)
Metabolite Accession: GCST90199711
Name: docosadienoate (22:2n6)
Hmdb Id: HMDB0061714
Super Pathway: NA
Sub Pathway: NA
Inchikey: HVGRZDASOHMCSK

Associated Genomic Regions

Region: rs968567

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.201
Position:
61595564
SE (Ratio):
0.013
Effect Allele:
T
Z-score (Ratio):
15.492
Reference Allele:
C
-log10(P):
-122.969
MAF:
0.179
Beta (Num):
0.145
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.056
SE (Den):
0.020
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

Region: rs12928099

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Clumped rQTL variant

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SNP Summary

Chr:
16
Beta (Ratio):
0.111
Position:
15150505
SE (Ratio):
0.011
Effect Allele:
A
Z-score (Ratio):
10.167
Reference Allele:
C
-log10(P):
-54.234
MAF:
0.291
Beta (Num):
0.100
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
-0.011
SE (Den):
0.017
No CNV overlap
rQTL cluster:
34
Reaction Distance:
NA
Closest Genes:
PDXDC1 NTAN1 RRN3 NPIPA1 NOMO1

LLM Analysis

Numerator Metabolite Explanation:

Polyunsaturated fatty acid biosynthesis.6[1], 7[2]

Denominator Metabolite Explanation:

Polyunsaturated fatty acid biosynthesis.8[1], 9[2]

Ratio Explanation:

This ratio reflects the activity of the FADS1 enzyme, which converts dihomo-linolenate to arachidonic acid, a precursor for the pathway leading to docosadienoate.10[1], 11[2], 12[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Variants in the FADS gene cluster influence the activity of desaturase enzymes, altering the balance of pro-inflammatory and anti-inflammatory polyunsaturated fatty acids.13[1], 2[2], 14[3] This dysregulation is linked to inflammatory skin conditions like dermatitis and sinusitis, and also affects blood cell and lipid parameters.1[4], 15[5], 16[6]

Phenotype Driver:

Gene-centric:FADS1/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