1-(1-enyl-stearoyl)-gpe (p-18:0)* to sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0)*

Numerator Metabolite

Metabolite Accession: GCST90199910
Name: 1-(1-enyl-stearoyl)-gpe (p-18:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200053
Name: sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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):
0.246
Position:
45412079
SE (Ratio):
0.033
Effect Allele:
T
Z-score (Ratio):
7.546
Reference Allele:
C
-log10(P):
-30.734
MAF:
0.084
Beta (Num):
0.129
Novel Locus:
Yes ✔️
SE (Num):
0.028
Beta (Den):
-0.117
SE (Den):
0.026
No CNV overlap
rQTL cluster:
8
Reaction Distance:
NA
Closest Genes:
APOE TOMM40 APOC1 PVRL2 APOC4

LLM Analysis

Numerator Metabolite Explanation:

Plasmalogen biosynthesis

Denominator Metabolite Explanation:

Sphingomyelin metabolism4[1], 5[2]

Ratio Explanation:

APOE's role in lipid transport influences the availability of precursors for both plasmalogen and sphingomyelin synthesis, thus affecting their relative abundance.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Variants in APOE, a key lipid transport gene, are associated with altered lipid profiles, including the ratio of ether phospholipids to sphingolipids.2[1], 3[2] This dysregulation is linked to an increased risk for cardiovascular diseases like myocardial infarction and atherosclerosis, likely through APOE's established role in lipoprotein metabolism.6[3], 7[4]

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