dihomo-linolenate (20:3n3 or n6) to 10-nonadecenoate (19:1n9)

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 10-nonadecenoate (19:1n9)
Metabolite Accession: GCST90199728
Name: 10-nonadecenoate (19:1n9)
Hmdb Id: HMDB0013622
Super Pathway: NA
Sub Pathway: NA
Inchikey: BBOWBNGUEWHNQZ

Associated Genomic Regions

Region: rs968567

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.139
Position:
61595564
SE (Ratio):
0.012
Effect Allele:
T
Z-score (Ratio):
11.247
Reference Allele:
C
-log10(P):
-65.899
MAF:
0.179
Beta (Num):
0.145
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.006
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):
0.095
Position:
15150505
SE (Ratio):
0.010
Effect Allele:
A
Z-score (Ratio):
9.106
Reference Allele:
C
-log10(P):
-43.908
MAF:
0.291
Beta (Num):
0.100
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
0.006
SE (Den):
0.016
No CNV overlap
rQTL cluster:
34
Reaction Distance:
NA
Closest Genes:
PDXDC1 NTAN1 RRN3 NPIPA1 NOMO1

LLM Analysis

Numerator Metabolite Explanation:

n-6 PUFA biosynthesis

Denominator Metabolite Explanation:

Fatty Acid Metabolism

Ratio Explanation:

This ratio likely reflects FADS2 enzyme activity. FADS2 is required for dihomo-linolenate (numerator) synthesis, thus higher ratios suggest increased enzyme activity.2[1], 4[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variation in FADS2 alters its enzymatic activity, which changes the balance of fatty acids like dihomo-linolenate.2[1], 5[2], 6[3] This dysregulation of inflammatory precursors is linked to skin inflammation (dermatitis) and altered blood lipid profiles observed in PheWAS.7[4], 5[5], 8[6]

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