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

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 2-hydroxypalmitate
Metabolite Accession: GCST90199795
Name: 2-hydroxypalmitate
Hmdb Id: HMDB0031057
Super Pathway: NA
Sub Pathway: NA
Inchikey: JGHSBPIZNUXPLA

Associated Genomic Regions

Region: rs61896141

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
0.151
Position:
61556039
SE (Ratio):
0.016
Effect Allele:
C
Z-score (Ratio):
9.408
Reference Allele:
A
-log10(P):
-46.731
MAF:
0.179
Beta (Num):
0.149
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.002
SE (Den):
0.020
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid biosynthesis/metabolism.5[1], 6[2]

Denominator Metabolite Explanation:

Fatty acid alpha-oxidation.7[1], 8[2]

Ratio Explanation:

The ratio reflects FADS1/FADS2 enzymatic activity, where higher activity favors dihomo-linolenate production over pathways leading to 2-hydroxypalmitate, influencing inflammatory and metabolic processes.4[1], 9[2], 10[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1/FADS2 gene variants alter enzyme activity, impacting the dihomo-linolenate to 2-hydroxypalmitate ratio.10[1], 11[2] This dysregulation of fatty acid metabolism is linked to inflammatory skin conditions like dermatitis and sinusitis, as well as altered blood lipid and cell profiles.1[3], 12[4], 13[5], 14[6]

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