sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)* to 1-(1-enyl-stearoyl)-2-arachidonoyl-gpe (p-18:0/20:4)*

Numerator Metabolite

Metabolite Accession: GCST90200033
Name: sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)*
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

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
19
Beta (Ratio):
-0.254
Position:
45412079
SE (Ratio):
0.032
Effect Allele:
T
Z-score (Ratio):
-7.829
Reference Allele:
C
-log10(P):
-32.946
MAF:
0.084
Beta (Num):
-0.102
Novel Locus:
Yes ✔️
SE (Num):
0.025
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 and ceramide metabolism.10[1], 11[2], 12[3], 13[4]

Denominator Metabolite Explanation:

Ether lipid and glycerophospholipid metabolism.14[1], 15[2], 16[3], 17[4]

Ratio Explanation:

The ratio reflects the balance between sphingolipid and ether phospholipid metabolism, both influenced by APOE's role in lipid transport and lipoprotein composition.18[1], 19[2], 20[3], 21[4]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered APOE function likely disrupts the balance of sphingomyelin and ether phospholipid transport, contributing to dyslipidemia and increased risk for atherosclerosis and myocardial infarction, which are observed phenotypes.22[1], 23[2], 24[3], 25[4], 26[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