sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)* to 1-(1-enyl-stearoyl)-2-arachidonoyl-gpe (p-18:0/20:4)*

Numerator Metabolite

Metabolite Accession: GCST90199995
Name: sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-(1-enyl-stearoyl)-2-arachidonoyl-gpe (p-18:0/20:4)*
Metabolite Accession: GCST90200058
Name: 1-(1-enyl-stearoyl)-2-arachidonoyl-gpe (p-18:0/20:4)*
Hmdb Id: HMDB0005779
Super Pathway: NA
Sub Pathway: NA
Inchikey: URPXXNCTXCOATD

Associated Genomic Regions

Region: rs174546

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):
0.474
Position:
61569830
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
22.368
Reference Allele:
C
-log10(P):
-253.495
MAF:
0.339
Beta (Num):
0.186
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.287
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:

Ether lipid metabolism, Glycerophospholipid metabolism.6[1], 7[2]

Ratio Explanation:

The ratio reflects FADS1/FADS2 activity, which synthesizes the arachidonoyl moiety (20:4) in the plasmalogen, relative to the cellular pool of specific sphingomyelins.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1/FADS2 gene activity alters polyunsaturated fatty acid levels, influencing both pro-inflammatory and anti-inflammatory pathways.8[1], 3[2] This dysregulation of lipid metabolism is linked to the diverse range of inflammatory, metabolic (Type 2 diabetes, hypercholesterolemia), and cardiovascular phenotypes observed.9[3], 10[4], 11[5]

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