lignoceroyl sphingomyelin (d18:1/24:0) to 1-stearoyl-2-linoleoyl-gpi (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-stearoyl-2-linoleoyl-gpi (18:0/18:2)
Metabolite Accession: GCST90200067
Name: 1-stearoyl-2-linoleoyl-gpi (18:0/18:2)
Hmdb Id: HMDB0009809
Super Pathway: NA
Sub Pathway: NA
Inchikey: KZVRAFHIKMDULK

Associated Genomic Regions

Region: rs174536

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
-0.270
Position:
61551927
SE (Ratio):
0.017
Effect Allele:
C
Z-score (Ratio):
-15.855
Reference Allele:
A
-log10(P):
-128.689
MAF:
0.341
Beta (Num):
-0.066
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.204
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):
-0.276
Position:
45412079
SE (Ratio):
0.029
Effect Allele:
T
Z-score (Ratio):
-9.457
Reference Allele:
C
-log10(P):
-47.203
MAF:
0.084
Beta (Num):
-0.156
Novel Locus:
Yes ✔️
SE (Num):
0.027
Beta (Den):
0.120
SE (Den):
0.027
No CNV overlap
rQTL cluster:
8
Reaction Distance:
NA
Closest Genes:
APOE TOMM40 APOC1 PVRL2 APOC4

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.8[1], 9[2], 10[3]

Denominator Metabolite Explanation:

Glycosylphosphatidylinositol (GPI)-anchor biosynthesis.11[1], 12[2], 13[3], 14[4]

Ratio Explanation:

The ratio reflects an imbalance between sphingolipid and GPI-anchor pathways, potentially influenced by APOE's role in lipid transport and metabolism.15[1], 16[2], 17[3], 3[4]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in APOE and APOC1 alters lipoprotein metabolism, leading to dyslipidemia, which is a primary risk factor for cholelithiasis and ischemic heart disease.18[1], 4[2], 6[3], 19[4], 20[5]

Phenotype Driver:

Gene-centric:APOE/APOC1

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