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

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

Metabolite Accession: GCST90199910
Name: 1-(1-enyl-stearoyl)-gpe (p-18:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs445925

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):
-0.261
Position:
45415640
SE (Ratio):
0.032
Effect Allele:
A
Z-score (Ratio):
-8.221
Reference Allele:
G
-log10(P):
-36.136
MAF:
0.107
Beta (Num):
-0.146
Novel Locus:
Yes ✔️
SE (Num):
0.024
Beta (Den):
0.115
SE (Den):
0.025
No CNV overlap
rQTL cluster:
8
Reaction Distance:
NA
Closest Genes:
APOC1 APOE TOMM40 PVRL2 APOC4

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.8[1], 9[2], 10[3], 11[4], 12[5]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism.13[1], 14[2], 15[3]

Ratio Explanation:

The ratio reflects the balance between sphingomyelin and plasmalogen synthesis and metabolism, potentially influenced by apolipoprotein-mediated lipid transport and processing.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

APOC1 and APOE are key regulators of lipoprotein metabolism, influencing the transport of lipids like sphingomyelin and phospholipids.16[1], 17[2] Altered levels of these apolipoproteins can disrupt lipid homeostasis, contributing to dyslipidemia and increasing the risk of coronary atherosclerosis and myocardial infarction.18[3], 19[4]

Phenotype Driver:

Gene-centric:APOC1/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