sphingomyelin (d18:1/20:0, d16:1/22:0)* to 1-(1-enyl-stearoyl)-2-linoleoyl-gpe (p-18:0/18:2)*

Numerator Metabolite

Structure of sphingomyelin (d18:1/20:0, d16:1/22:0)*
Metabolite Accession: GCST90200001
Name: sphingomyelin (d18:1/20:0, d16:1/22:0)*
Hmdb Id: HMDB0012102
Super Pathway: NA
Sub Pathway: NA
Inchikey: AADLTHQNYQJHQV

Denominator Metabolite

Structure of 1-(1-enyl-stearoyl)-2-linoleoyl-gpe (p-18:0/18:2)*
Metabolite Accession: GCST90200076
Name: 1-(1-enyl-stearoyl)-2-linoleoyl-gpe (p-18:0/18:2)*
Hmdb Id: HMDB0011376
Super Pathway: NA
Sub Pathway: NA
Inchikey: XVXISDREVDGQPX

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):
-0.410
Position:
45412079
SE (Ratio):
0.035
Effect Allele:
T
Z-score (Ratio):
-11.687
Reference Allele:
C
-log10(P):
-70.986
MAF:
0.084
Beta (Num):
-0.192
Novel Locus:
No
SE (Num):
0.027
Beta (Den):
0.218
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; membrane structure.7[1], 8[2], 9[3]

Denominator Metabolite Explanation:

Ether lipid metabolism; membrane structure.10[1], 11[2]

Ratio Explanation:

The ratio reflects lipoprotein composition, which is influenced by *APOE*. Both lipids are transported on lipoproteins, and their relative abundance is altered in dyslipidemia.12[1], 13[2], 14[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

*APOE* gene variants are strongly associated with altered lipid metabolism, leading to dyslipidemia, hypercholesterolemia, and an increased risk of ischemic heart disease and myocardial infarction.15[1], 16[2], 17[3], 18[4], 19[5] The metabolite ratio is a downstream biomarker of this genetically-driven pathology.

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