lignoceroyl sphingomyelin (d18:1/24:0) to 1-(1-enyl-stearoyl)-2-linoleoyl-gpe (p-18:0/18:2)*

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-(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: rs174536

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
-0.230
Position:
61551927
SE (Ratio):
0.018
Effect Allele:
C
Z-score (Ratio):
-12.512
Reference Allele:
A
-log10(P):
-81.038
MAF:
0.341
Beta (Num):
-0.066
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.164
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

Region: rs7412

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.374
Position:
45412079
SE (Ratio):
0.031
Effect Allele:
T
Z-score (Ratio):
-11.910
Reference Allele:
C
-log10(P):
-73.635
MAF:
0.084
Beta (Num):
-0.156
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.9[1], 10[2], 11[3]

Denominator Metabolite Explanation:

Plasmalogen biosynthesis, glycerophospholipid metabolism.12[1], 13[2], 14[3], 15[4]

Ratio Explanation:

Increased ratio may reflect altered fatty acid desaturation (FADS) and lipoprotein metabolism (APOE), impacting both sphingolipid and ether phospholipid pools.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in APOE and FADS1/FADS2 influence the metabolism of both sphingolipids and plasmalogens. This altered lipid profile is associated with an increased risk for lipoprotein-related disorders, cholelithiasis, and cardiovascular diseases, likely through effects on membrane composition and lipid signaling.16[1], 17[2], 18[3], 19[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