sphingomyelin (d18:2/14:0, d18:1/14:1)* to 1-palmitoyl-2-dihomo-linolenoyl-gpc (16:0/20:3n3 or 6)*

Numerator Metabolite

Metabolite Accession: GCST90199975
Name: sphingomyelin (d18:2/14:0, d18:1/14:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator 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

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):
-0.431
Position:
61571382
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
-25.700
Reference Allele:
G
-log10(P):
-333.708
MAF:
0.304
Beta (Num):
-0.096
Novel Locus:
No
SE (Num):
0.014
Beta (Den):
0.335
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Phospholipid biosynthesis, Fatty acid metabolism.1[1], 6[2]

Ratio Explanation:

This ratio reflects the balance between sphingolipid levels and the biosynthesis of specific polyunsaturated fatty acids, which is regulated by FADS1 enzyme activity.2[1], 7[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1 alters enzyme activity, impacting the balance of pro-inflammatory and anti-inflammatory polyunsaturated fatty acids.2[1], 3[2] This dysregulation of lipid mediators is linked to inflammatory skin conditions like seborrhoeic and infective dermatitis, where fatty acid imbalances are observed.8[3], 9[4]

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