lignoceroyl sphingomyelin (d18:1/24:0) to 1-(1-enyl-stearoyl)-2-arachidonoyl-gpe (p-18:0/20:4)*

Numerator Metabolite

Structure of lignoceroyl sphingomyelin (d18:1/24:0)
Metabolite Accession: GCST90200020
Name: lignoceroyl sphingomyelin (d18:1/24:0)
Hmdb Id: HMDB0011697
Super Pathway: NA
Sub Pathway: NA
Inchikey: QEDPUVGSSDPBMD

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):
-0.308
Position:
45412079
SE (Ratio):
0.035
Effect Allele:
T
Z-score (Ratio):
-8.877
Reference Allele:
C
-log10(P):
-41.818
MAF:
0.084
Beta (Num):
-0.156
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.8[1], 9[2], 10[3], 11[4]

Denominator Metabolite Explanation:

Ether lipid / Plasmalogen metabolism.12[1], 13[2], 14[3]

Ratio Explanation:

APOE's role in transporting components of both sphingolipids and plasmalogens suggests that genetic variations can shift the balance between these distinct lipid classes.15[1], 16[2], 17[3], 18[4]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

APOE variants influence systemic lipid transport, affecting the balance of various lipid classes including sphingomyelins and plasmalogens. This altered lipid profile is strongly associated with hypercholesterolemia, atherosclerosis, and myocardial infarction, reflecting the gene's central role in lipid-driven cardiovascular pathology.1[1], 2[2], 5[3], 19[4], 20[5], 21[6]

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