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

Numerator Metabolite

Structure of 1-palmitoyl-2-linoleoyl-gpi (16:0/18:2)
Metabolite Accession: GCST90200332
Name: 1-palmitoyl-2-linoleoyl-gpi (16:0/18:2)
Hmdb Id: HMDB0009784
Super Pathway: NA
Sub Pathway: NA
Inchikey: BSNJSZUDOMPYIR

Denominator 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

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):
0.290
Position:
45412079
SE (Ratio):
0.035
Effect Allele:
T
Z-score (Ratio):
8.218
Reference Allele:
C
-log10(P):
-36.114
MAF:
0.084
Beta (Num):
0.155
Novel Locus:
Yes ✔️
SE (Num):
0.028
Beta (Den):
-0.135
SE (Den):
0.026
No CNV overlap
rQTL cluster:
8
Reaction Distance:
NA
Closest Genes:
APOE TOMM40 APOC1 PVRL2 APOC4

LLM Analysis

Numerator Metabolite Explanation:

Glycerophospholipid metabolism, GPI-anchor biosynthesis.6[1], 7[2], 8[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism.9[1], 10[2], 11[3]

Ratio Explanation:

The ratio may reflect a balance between membrane lipid classes, influenced by APOE's global role in assembling and clearing circulating lipoprotein particles.12[1], 13[2], 14[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in APOE alters lipid transport, reflected in the ratio.15[1], 16[2] This dysregulation is a primary driver of hypercholesterolemia and subsequent atherosclerotic cardiovascular diseases like myocardial infarction, which are strongly associated phenotypes.17[3], 18[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