sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)* to 1-stearoyl-gpe (18:0)

Numerator Metabolite

Metabolite Accession: GCST90200033
Name: sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-stearoyl-gpe (18:0)
Metabolite Accession: GCST90199772
Name: 1-stearoyl-gpe (18:0)
Hmdb Id: HMDB0011130
Super Pathway: NA
Sub Pathway: NA
Inchikey: BBYWOYAFBUOUFP

Associated Genomic Regions

Region: rs5117

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):
-0.182
Position:
45418790
SE (Ratio):
0.021
Effect Allele:
C
Z-score (Ratio):
-8.648
Reference Allele:
T
-log10(P):
-39.787
MAF:
0.222
Beta (Num):
-0.066
Novel Locus:
Yes ✔️
SE (Num):
0.016
Beta (Den):
0.116
SE (Den):
0.018
No CNV overlap
rQTL cluster:
8
Reaction Distance:
NA
Closest Genes:
APOC1 APOE TOMM40 PVRL2 APOC4

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis and metabolism.3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism.6[1], 7[2], 8[3]

Ratio Explanation:

APOE's role in lipid transport influences the balance between sphingomyelin and lysophosphatidylethanolamine, both key components of cell membranes and lipid signaling pathways.9[1], 10[2], 11[3], 12[4]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered APOE function can disrupt lipid homeostasis, impacting both sphingomyelin and glycerophospholipid levels.13[1], 10[2], 14[3] This dysregulation is linked to liver diseases like cirrhosis and hepatocellular carcinoma, potentially by affecting membrane integrity, lipid signaling, and inflammatory responses within the liver.15[4], 16[5], 17[6]

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