dihomo-linolenate (20:3n3 or n6) to palmitate (16:0)

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 palmitate (16:0)
Metabolite Accession: GCST90200397
Name: palmitate (16:0)
Hmdb Id: HMDB0000220
Super Pathway: NA
Sub Pathway: NA
Inchikey: IPCSVZSSVZVIGE

Associated Genomic Regions

Region: rs61897793

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.146
Position:
61599347
SE (Ratio):
0.011
Effect Allele:
A
Z-score (Ratio):
13.780
Reference Allele:
G
-log10(P):
-97.794
MAF:
0.181
Beta (Num):
0.147
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
9.64e-04
SE (Den):
0.020
No CNV overlap
rQTL cluster:
62
Reaction Distance:
12.0
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 FADS3

Region: rs34955778

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Clumped rQTL variant

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SNP Summary

Chr:
16
Beta (Ratio):
-0.084
Position:
15139594
SE (Ratio):
0.008
Effect Allele:
C
Z-score (Ratio):
-10.111
Reference Allele:
T
-log10(P):
-53.664
MAF:
0.430
Beta (Num):
-0.051
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.033
SE (Den):
0.015
No CNV overlap
rQTL cluster:
34
Reaction Distance:
12.0
Closest Genes:
PDXDC1 NTAN1 RRN3 NPIPA1 NOMO1

LLM Analysis

Numerator Metabolite Explanation:

Polyunsaturated fatty acid biosynthesis.4[1], 5[2]

Denominator Metabolite Explanation:

Fatty acid biosynthesis (lipogenesis).6[1], 7[2]

Ratio Explanation:

The ratio reflects FADS-mediated polyunsaturated fatty acid (PUFA) synthesis (numerator) from upstream saturated fatty acid precursors like palmitate (denominator), indicating desaturase efficiency.3[1], 7[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced FADS activity alters polyunsaturated fatty acid levels, impacting inflammatory pathways and skin barrier integrity.8[1], 9[2] This may increase susceptibility to inflammatory skin conditions like seborrhoeic and infective dermatitis, and inflammatory responses underlying sinusitis.10[3], 9[4]

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