tricosanoyl sphingomyelin (d18:1/23:0)* to 1-(1-enyl-palmitoyl)-2-oleoyl-gpe (p-16:0/18:1)*

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

Structure of 1-(1-enyl-palmitoyl)-2-oleoyl-gpe (p-16:0/18:1)*
Metabolite Accession: GCST90200061
Name: 1-(1-enyl-palmitoyl)-2-oleoyl-gpe (p-16:0/18:1)*
Hmdb Id: HMDB0011342
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZVVYJAAMWXATNY

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):
-0.259
Position:
45412079
SE (Ratio):
0.033
Effect Allele:
T
Z-score (Ratio):
-7.932
Reference Allele:
C
-log10(P):
-33.767
MAF:
0.084
Beta (Num):
-0.135
Novel Locus:
Yes ✔️
SE (Num):
0.026
Beta (Den):
0.124
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 metabolism, ceramide synthesis.6[1], 7[2]

Denominator Metabolite Explanation:

Ether lipid metabolism, glycerophospholipid metabolism.8[1], 9[2]

Ratio Explanation:

The ratio likely reflects APOE-driven alterations in lipoprotein particle composition, indicating a shift in the balance between circulating sphingomyelin and ether phospholipid species.10[1], 11[2], 12[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

APOE variants alter lipoprotein metabolism, reflected by the sphingomyelin to plasmalogen ratio. This dysregulation of lipid transport is a well-established causal factor for dyslipidemia, atherosclerosis, and myocardial infarction, linking the gene to the phenotype.13[1], 14[2], 15[3]

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