1-palmitoyl-2-dihomo-linolenoyl-gpc (16:0/20:3n3 or 6)* to sphingomyelin (d17:2/16:0, d18:2/15:0)*

Numerator Metabolite

Metabolite Accession: GCST90200051
Name: 1-palmitoyl-2-dihomo-linolenoyl-gpc (16:0/20:3n3 or 6)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200125
Name: sphingomyelin (d17:2/16:0, d18:2/15:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs174549

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):
0.420
Position:
61571382
SE (Ratio):
0.019
Effect Allele:
A
Z-score (Ratio):
22.151
Reference Allele:
G
-log10(P):
-248.655
MAF:
0.305
Beta (Num):
0.335
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.085
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Fatty acid biosynthesis

Denominator Metabolite Explanation:

Sphingolipid metabolism.3[1], 4[2]

Ratio Explanation:

The ratio reflects the balance between glycerophospholipid and sphingolipid synthesis. FADS1 activity directly influences the numerator's fatty acid composition, impacting this balance.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1 alter its enzymatic activity, leading to changes in the composition of PUFAs in cell membranes.1[1] This altered lipid profile can impact skin inflammation and barrier function, contributing to the development of seborrhoeic dermatitis.5[2], 6[3]

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