tricosanoyl sphingomyelin (d18:1/23:0)* to 1-(1-enyl-stearoyl)-gpe (p-18:0)*

Numerator Metabolite

Structure of tricosanoyl sphingomyelin (d18:1/23:0)*
Metabolite Accession: GCST90200034
Name: tricosanoyl sphingomyelin (d18:1/23:0)*
Hmdb Id: HMDB0012105
Super Pathway: NA
Sub Pathway: NA
Inchikey: SXZWBNWTCVLZJN

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

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SNP Summary

Chr:
19
Beta (Ratio):
-0.242
Position:
45414399
SE (Ratio):
0.028
Effect Allele:
A
Z-score (Ratio):
-8.674
Reference Allele:
C
-log10(P):
-40.022
MAF:
0.107
Beta (Num):
-0.126
Novel Locus:
Yes ✔️
SE (Num):
0.023
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], 6[3]

Denominator Metabolite Explanation:

Ether lipid metabolism, Glycerophospholipid metabolism.7[1], 8[2]

Ratio Explanation:

The ratio reflects the balance between sphingolipid and ether lipid pools, which is influenced by APOE's lipid transport function and is altered in cardiovascular disease.9[1], 10[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Variants in APOE, a key lipid transporter, are strongly linked to lipoprotein disorders and myocardial infarction.1[1], 2[2], 3[3] The altered ratio of sphingomyelin to plasmalogen reflects this genetic dysregulation of lipid metabolism, which contributes to the development of atherosclerotic cardiovascular diseases.11[4], 12[5], 13[6]

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