lignoceroyl sphingomyelin (d18:1/24:0) to 1-(1-enyl-stearoyl)-2-oleoyl-gpe (p-18:0/18:1)

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-oleoyl-gpe (p-18:0/18:1)
Metabolite Accession: GCST90200044
Name: 1-(1-enyl-stearoyl)-2-oleoyl-gpe (p-18:0/18:1)
Hmdb Id: HMDB0011375
Super Pathway: NA
Sub Pathway: NA
Inchikey: XVYPOHCSLJZFED

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):
-0.357
Position:
45412079
SE (Ratio):
0.034
Effect Allele:
T
Z-score (Ratio):
-10.381
Reference Allele:
C
-log10(P):
-56.461
MAF:
0.084
Beta (Num):
-0.156
Novel Locus:
No
SE (Num):
0.027
Beta (Den):
0.200
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.7[1], 8[2], 9[3]

Denominator Metabolite Explanation:

Ether lipid (plasmalogen) metabolism.10[1], 11[2], 12[3]

Ratio Explanation:

The ratio may reflect altered lipid transport by APOE, as certain APOE genotypes are associated with differential levels of both sphingomyelins and plasmalogens.13[1], 14[2], 15[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in APOE are a primary driver of dyslipidemia and cardiovascular diseases.5[1], 16[2] The altered ratio of lignoceroyl sphingomyelin to plasmalogen reflects these systemic lipid disturbances, linking the genetic factor to phenotypes like hypercholesterolemia and myocardial infarction.17[3], 18[4], 19[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