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

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-(1-enyl-palmitoyl)-2-linoleoyl-gpe (p-16:0/18:2)*
Metabolite Accession: GCST90200075
Name: 1-(1-enyl-palmitoyl)-2-linoleoyl-gpe (p-16:0/18:2)*
Hmdb Id: HMDB0011343
Super Pathway: NA
Sub Pathway: NA
Inchikey: LJVXDBWIBQQKFU

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):
-0.262
Position:
45412079
SE (Ratio):
0.033
Effect Allele:
T
Z-score (Ratio):
-7.908
Reference Allele:
C
-log10(P):
-33.576
MAF:
0.084
Beta (Num):
-0.135
Novel Locus:
Yes ✔️
SE (Num):
0.026
Beta (Den):
0.127
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.12[1], 13[2], 14[3]

Denominator Metabolite Explanation:

Plasmalogen metabolism, Glycerophospholipid metabolism.15[1], 16[2]

Ratio Explanation:

The ratio likely reflects altered lipid homeostasis due to APOE's role in lipid transport and FADS2's influence on the linoleic acid component of the denominator.17[1], 18[2], 8[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in APOE is a primary driver of altered lipoprotein metabolism, which is linked to an increased risk for cholelithiasis and ischemic heart disease.7[1], 10[2], 3[3], 19[4], 20[5], 21[6], 6[7], 22[8], 23[9], 24[10], 25[11] The ratio reflects this systemic metabolic dysregulation.

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