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

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

Metabolite Accession: GCST90200077
Name: 1-stearoyl-2-oleoyl-gpi (18:0/18:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs102275

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
11
Beta (Ratio):
-0.178
Position:
61557803
SE (Ratio):
0.018
Effect Allele:
C
Z-score (Ratio):
-9.964
Reference Allele:
T
-log10(P):
-52.176
MAF:
0.346
Beta (Num):
-0.051
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.127
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

Region: rs390082

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
19
Beta (Ratio):
-0.241
Position:
45416831
SE (Ratio):
0.027
Effect Allele:
G
Z-score (Ratio):
-8.771
Reference Allele:
T
-log10(P):
-40.875
MAF:
0.108
Beta (Num):
-0.126
Novel Locus:
Yes ✔️
SE (Num):
0.023
Beta (Den):
0.115
SE (Den):
0.025
No CNV overlap
rQTL cluster:
8
Reaction Distance:
NA
Closest Genes:
APOC1 APOE TOMM40 PVRL2 APOC4

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.5[1], 6[2], 7[3], 8[4]

Denominator Metabolite Explanation:

GPI anchor biosynthesis, Phospholipid metabolism.9[1]

Ratio Explanation:

The ratio reflects distinct lipid pathway activities, where the numerator is a sphingolipid and the denominator a GPI anchor precursor, potentially modulated by APOC1's role in overall lipid transport and metabolism.1[1], 10[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

APOC1/APOE's role in lipoprotein metabolism directly influences the risk for cholelithiasis, heart disease, and dyslipidemia.1[1], 10[2], 11[3] The ratio of a sphingomyelin to a GPI-anchor component likely acts as a downstream biomarker of this genetically-driven systemic lipid dysregulation.

Phenotype Driver:

Gene-centric: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