sphingomyelin (d18:1/17:0, d17:1/18:0, d19:1/16:0) to 1-(1-enyl-stearoyl)-2-arachidonoyl-gpe (p-18:0/20:4)*

Numerator Metabolite

Metabolite Accession: GCST90200047
Name: sphingomyelin (d18:1/17:0, d17:1/18:0, d19:1/16:0)
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: rs7412

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:
19
Beta (Ratio):
-0.276
Position:
45412079
SE (Ratio):
0.034
Effect Allele:
T
Z-score (Ratio):
-8.075
Reference Allele:
C
-log10(P):
-34.931
MAF:
0.084
Beta (Num):
-0.124
Novel Locus:
Yes ✔️
SE (Num):
0.027
Beta (Den):
0.152
SE (Den):
0.028
No CNV overlap
rQTL cluster:
8
Reaction Distance:
NA
Closest Genes:
APOE TOMM40 APOC1 PVRL2 APOC4

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism, ceramide biosynthesis.6[1], 7[2], 8[3], 9[4]

Denominator Metabolite Explanation:

Plasmalogen biosynthesis, glycerophospholipid metabolism.10[1], 11[2], 12[3], 13[4]

Ratio Explanation:

The ratio reflects the balance of sphingomyelin and plasmalogen, key lipid components of lipoproteins whose composition and clearance are influenced by APOE.14[1], 15[2], 16[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in APOE alters its ability to clear lipoproteins, changing the balance of lipids like sphingomyelin and plasmalogens.14[1], 16[2] This altered lipid profile is a well-established causal risk factor for the observed phenotypes of hypercholesterolemia, coronary atherosclerosis, and myocardial infarction.1[3], 17[4], 18[5]

Phenotype Driver:

Gene-centric:APOE

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