tricosanoyl sphingomyelin (d18:1/23:0)* to n-palmitoyl-sphinganine (d18:0/16:0)

Numerator Metabolite

Structure of tricosanoyl sphingomyelin (d18:1/23:0)*
Metabolite Accession: GCST90200034
Name: tricosanoyl sphingomyelin (d18:1/23:0)*
Hmdb Id: HMDB0012105
Super Pathway: NA
Sub Pathway: NA
Inchikey: SXZWBNWTCVLZJN

Denominator Metabolite

Structure of n-palmitoyl-sphinganine (d18:0/16:0)
Metabolite Accession: GCST90200064
Name: n-palmitoyl-sphinganine (d18:0/16:0)
Hmdb Id: HMDB11760
Super Pathway: NA
Sub Pathway: NA
Inchikey: GCGTXOVNNFGTPQ

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):
-0.271
Position:
45412079
SE (Ratio):
0.031
Effect Allele:
T
Z-score (Ratio):
-8.745
Reference Allele:
C
-log10(P):
-40.646
MAF:
0.084
Beta (Num):
-0.135
Novel Locus:
Yes ✔️
SE (Num):
0.026
Beta (Den):
0.136
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:

Sphingomyelin metabolism7[1], 8[2], 9[3], 10[4]

Denominator Metabolite Explanation:

Sphingolipid metabolism11[1], 12[2], 13[3], 9[4], 14[5], 15[6], 10[7]

Ratio Explanation:

The ratio reflects altered sphingolipid metabolism, potentially influenced by APOE's role in overall lipid transport and homeostasis, though a direct enzymatic link is not established.16[1], 17[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in APOE influences systemic lipid metabolism.3[1], 6[2] This dysregulation can alter the balance of various sphingolipids, contributing to the pathogenesis of atherosclerosis, myocardial infarction, and other associated cardiovascular phenotypes by affecting lipoprotein metabolism and inflammatory responses.1[3], 2[4], 18[5], 19[6], 20[7]

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