1-(1-enyl-stearoyl)-gpe (p-18:0)* to sphingomyelin (d18:1/19:0, d19:1/18:0)*

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: GCST90200131
Name: sphingomyelin (d18:1/19:0, d19:1/18:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs445925

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):
0.225
Position:
45415640
SE (Ratio):
0.030
Effect Allele:
A
Z-score (Ratio):
7.477
Reference Allele:
G
-log10(P):
-30.210
MAF:
0.108
Beta (Num):
0.115
Novel Locus:
Yes ✔️
SE (Num):
0.025
Beta (Den):
-0.111
SE (Den):
0.023
No CNV overlap
rQTL cluster:
8
Reaction Distance:
NA
Closest Genes:
APOC1 APOE TOMM40 PVRL2 APOC4

LLM Analysis

Numerator Metabolite Explanation:

Plasmalogen biosynthesis4[1], 5[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism6[1], 7[2]

Ratio Explanation:

The ratio of these two membrane lipids, both found in lipoproteins, may reflect lipoprotein composition and metabolism which is regulated by APOE.1[1], 8[2], 9[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in APOE impact lipoprotein metabolism, which alters the composition of circulating lipids, including plasmalogens and sphingomyelins.1[1], 2[2] This dyslipidemia is a well-established risk factor for atherosclerosis and subsequent myocardial infarction, linking the gene to the phenotype via the metabolic ratio.10[3], 11[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