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

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-stearoyl)-2-oleoyl-gpe (p-18:0/18:1)
Metabolite Accession: GCST90200044
Name: 1-(1-enyl-stearoyl)-2-oleoyl-gpe (p-18:0/18:1)
Hmdb Id: HMDB0011375
Super Pathway: NA
Sub Pathway: NA
Inchikey: XVYPOHCSLJZFED

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):
-0.335
Position:
45412079
SE (Ratio):
0.033
Effect Allele:
T
Z-score (Ratio):
-10.188
Reference Allele:
C
-log10(P):
-54.456
MAF:
0.084
Beta (Num):
-0.135
Novel Locus:
No
SE (Num):
0.026
Beta (Den):
0.200
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.7[1], 8[2]

Denominator Metabolite Explanation:

Plasmalogen and ether lipid metabolism.9[1], 10[2], 11[3], 12[4], 13[5]

Ratio Explanation:

The ratio likely reflects APOE's differential impact on the metabolism and transport of very-long-chain sphingomyelins and plasmalogens, both integral to membrane function.14[1], 15[2], 16[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in APOE alter its lipid transport function, impacting the balance of sphingomyelins and plasmalogens.14[1], 16[2] This dysregulation of lipid metabolism is a known driver for atherosclerosis, hypercholesterolemia, and myocardial infarction, which are all strongly associated phenotypes.17[3], 18[4], 19[5], 20[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