lignoceroyl sphingomyelin (d18:1/24:0) to 1-stearoyl-gpe (18:0)

Numerator Metabolite

Structure of lignoceroyl sphingomyelin (d18:1/24:0)
Metabolite Accession: GCST90200020
Name: lignoceroyl sphingomyelin (d18:1/24:0)
Hmdb Id: HMDB0011697
Super Pathway: NA
Sub Pathway: NA
Inchikey: QEDPUVGSSDPBMD

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):
-0.191
Position:
45418790
SE (Ratio):
0.022
Effect Allele:
C
Z-score (Ratio):
-8.531
Reference Allele:
T
-log10(P):
-38.774
MAF:
0.222
Beta (Num):
-0.074
Novel Locus:
Yes ✔️
SE (Num):
0.018
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 synthesis and degradation.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Phospholipid and fatty acid metabolism.7[1], 8[2], 9[3]

Ratio Explanation:

The ratio may reflect APOE-mediated alterations in lipid transport and metabolism, potentially influencing sphingomyelin and glycerophosphoethanolamine balance in tissues like the liver.10[1], 11[2], 12[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

APOE genotype influences sphingolipid and glycerophospholipid metabolism.10[1], 13[2], 12[3] Altered levels of these lipids are associated with liver diseases like cirrhosis and hepatocellular carcinoma, potentially through mechanisms involving inflammation, and lipid accumulation.14[4], 15[5], 16[6], 17[7], 18[8]

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