palmitoyl sphingomyelin (d18:1/16:0) to 1-(1-enyl-stearoyl)-gpe (p-18:0)*

Numerator Metabolite

Structure of palmitoyl sphingomyelin (d18:1/16:0)
Metabolite Accession: GCST90199876
Name: palmitoyl sphingomyelin (d18:1/16:0)
Hmdb Id: HMDB0010169
Super Pathway: NA
Sub Pathway: NA
Inchikey: RWKUXQNLWDTSLO

Denominator Metabolite

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

Associated Genomic Regions

Region: rs72654473

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):
-0.232
Position:
45414399
SE (Ratio):
0.027
Effect Allele:
A
Z-score (Ratio):
-8.674
Reference Allele:
C
-log10(P):
-40.021
MAF:
0.107
Beta (Num):
-0.117
Novel Locus:
Yes ✔️
SE (Num):
0.024
Beta (Den):
0.116
SE (Den):
0.025
No CNV overlap
rQTL cluster:
8
Reaction Distance:
NA
Closest Genes:
APOE APOC1 TOMM40 PVRL2 APOC4

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism, Ether lipid metabolism.6[1], 7[2]

Ratio Explanation:

The ratio reflects the balance between sphingolipid and ether lipid metabolism, both influenced by APOE's role in overall lipid transport and homeostasis.1[1], 8[2], 9[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in APOE alters lipid transport and metabolism, impacting the balance of sphingomyelins and plasmalogens.8[1], 9[2], 10[3] This dyslipidemia is a key feature of and contributes to the pathophysiology of hypercholesterolemia and atherosclerotic cardiovascular diseases like myocardial infarction and angina pectoris.1[4], 11[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