tricosanoyl sphingomyelin (d18:1/23:0)* to 1-stearoyl-2-linoleoyl-gpi (18:0/18:2)

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 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: rs102275

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
-0.254
Position:
61557803
SE (Ratio):
0.017
Effect Allele:
C
Z-score (Ratio):
-14.608
Reference Allele:
T
-log10(P):
-109.605
MAF:
0.346
Beta (Num):
-0.051
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.203
SE (Den):
0.015
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):
-0.255
Position:
45412079
SE (Ratio):
0.030
Effect Allele:
T
Z-score (Ratio):
-8.494
Reference Allele:
C
-log10(P):
-38.453
MAF:
0.084
Beta (Num):
-0.135
Novel Locus:
Yes ✔️
SE (Num):
0.026
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.17[1], 18[2], 19[3], 20[4], 21[5]

Denominator Metabolite Explanation:

GPI anchor biosynthesis.22[1], 23[2]

Ratio Explanation:

The ratio reflects the balance between sphingolipid metabolism and GPI anchor biosynthesis, influenced by APOE/APOC1-mediated lipid transport which provides necessary components for both pathways.24[1], 25[2], 26[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered APOE/APOC1 function disrupts lipid transport, affecting sphingolipid and GPI anchor component balance, contributing to lipoprotein-related disorders like cholelithiasis and ischemic heart disease.27[1], 28[2], 3[3], 6[4], 7[5], 29[6], 30[7], 31[8], 32[9], 33[10], 8[11]

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