stearoyl sphingomyelin (d18:1/18:0) to 1-(1-enyl-stearoyl)-2-arachidonoyl-gpe (p-18:0/20:4)*

Numerator Metabolite

Structure of stearoyl sphingomyelin (d18:1/18:0)
Metabolite Accession: GCST90200335
Name: stearoyl sphingomyelin (d18:1/18:0)
Hmdb Id: HMDB0001348
Super Pathway: NA
Sub Pathway: NA
Inchikey: LKQLRGMMMAHREN

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):
-0.302
Position:
45412079
SE (Ratio):
0.035
Effect Allele:
T
Z-score (Ratio):
-8.736
Reference Allele:
C
-log10(P):
-40.567
MAF:
0.084
Beta (Num):
-0.150
Novel Locus:
Yes ✔️
SE (Num):
0.027
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:

Numerator Pathway(s) (max 10 words): Sphingolipid metabolism, ceramide synthesis. 7[1], 8[2], 9[3]

Denominator Metabolite Explanation:

Denominator Pathway(s) (max 10 words): Plasmalogen synthesis, glycerophospholipid metabolism. 10[1], 11[2], 12[3]

Ratio Explanation:

Ratio Interpretation (max 25 words): This ratio may reflect APOE's role in modulating the transport and metabolism of diverse lipid classes, such as sphingolipids and ether phospholipids. 1[1], 13[2], 6[3]

Ratio Evidence:

Ratio Evidence Level: metabolites related through biology

Gene Ratio Phenotype Relationship:

Ratio-Phenotype Link (max 50 words): APOE variants influence lipid transport, affecting circulating levels of various lipids. This dyslipidemia is a key risk factor for the associated phenotypes, including hypercholesterolemia, myocardial infarction, and atherosclerosis, which are strongly linked to APOE genotype. 1[1], 14[2], 15[3], 16[4]

Phenotype Driver:

Primary Driver Of Phenotype Link: 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