tricosanoyl sphingomyelin (d18:1/23:0)* to 1-palmitoyl-2-oleoyl-gpi (16:0/18:1)*

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-palmitoyl-2-oleoyl-gpi (16:0/18:1)*
Metabolite Accession: GCST90200080
Name: 1-palmitoyl-2-oleoyl-gpi (16:0/18:1)*
Hmdb Id: HMDB0009783
Super Pathway: NA
Sub Pathway: NA
Inchikey: PDLAMJKMOKWLAJ

Associated Genomic Regions

Region: rs7412

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):
-0.265
Position:
45412079
SE (Ratio):
0.031
Effect Allele:
T
Z-score (Ratio):
-8.455
Reference Allele:
C
-log10(P):
-38.121
MAF:
0.084
Beta (Num):
-0.135
Novel Locus:
Yes ✔️
SE (Num):
0.026
Beta (Den):
0.130
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.4[1]

Denominator Metabolite Explanation:

GPI anchor biosynthesis.5[1]

Ratio Explanation:

The ratio may reflect the balance between sphingolipid and GPI-anchor synthesis, both critical membrane components; APOE's role in lipid transport could influence this balance.6[1], 7[2], 8[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in APOE influence sphingolipid and overall lipid metabolism, which is linked to lipoprotein disorders and cardiovascular diseases like cholelithiasis and atherosclerosis.6[1], 9[2], 10[3] An altered balance of membrane lipids could contribute to the cellular dysfunction seen in these conditions.7[4], 8[5]

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