sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0)* to 1-(1-enyl-stearoyl)-2-arachidonoyl-gpe (p-18:0/20:4)*

Numerator Metabolite

Metabolite Accession: GCST90200053
Name: sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-(1-enyl-stearoyl)-2-arachidonoyl-gpe (p-18:0/20:4)*
Metabolite Accession: GCST90200058
Name: 1-(1-enyl-stearoyl)-2-arachidonoyl-gpe (p-18:0/20:4)*
Hmdb Id: HMDB0005779
Super Pathway: NA
Sub Pathway: NA
Inchikey: URPXXNCTXCOATD

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):
-0.269
Position:
45412079
SE (Ratio):
0.034
Effect Allele:
T
Z-score (Ratio):
-7.807
Reference Allele:
C
-log10(P):
-32.770
MAF:
0.084
Beta (Num):
-0.117
Novel Locus:
Yes ✔️
SE (Num):
0.026
Beta (Den):
0.152
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.9[1], 10[2], 11[3], 12[4]

Denominator Metabolite Explanation:

Ether lipid metabolism.13[1], 14[2], 15[3], 16[4]

Ratio Explanation:

The ratio reflects altered lipoprotein particle composition, where APOE variants differentially affect the transport and circulating levels of both sphingomyelins and plasmalogens.17[1], 18[2], 19[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

APOE variants modulate lipoprotein metabolism, leading to dyslipidemia, which is reflected in the sphingomyelin/plasmalogen ratio and is a primary driver for atherosclerosis, myocardial infarction, and other associated cardiovascular phenotypes.20[1], 21[2], 22[3], 23[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