hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to 1-(1-enyl-stearoyl)-2-linoleoyl-gpe (p-18:0/18:2)*

Numerator Metabolite

Metabolite Accession: GCST90200243
Name: hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))**
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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):
-0.332
Position:
45412079
SE (Ratio):
0.032
Effect Allele:
T
Z-score (Ratio):
-10.472
Reference Allele:
C
-log10(P):
-57.418
MAF:
0.084
Beta (Num):
-0.114
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.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Plasmalogen metabolism.7[1], 8[2], 9[3]

Ratio Explanation:

APOE isoforms differentially affect sphingomyelin and plasmalogen levels, influencing lipid raft composition and cellular signaling.10[1], 4[2], 7[3], 11[4]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

APOE genotype influences the ratio of hydroxypalmitoyl sphingomyelin to a plasmalogen species, impacting lipoprotein metabolism and increasing risk for hypercholesterolemia, cardiovascular diseases, and obesity. This is likely due to APOE's central role in lipid transport and metabolism, where different isoforms have varying efficiencies.1[1], 12[2], 3[3], 13[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