tricosanoyl sphingomyelin (d18:1/23:0)* to 1-stearoyl-2-linoleoyl-gpc (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-gpc (18:0/18:2)*
Metabolite Accession: GCST90200037
Name: 1-stearoyl-2-linoleoyl-gpc (18:0/18:2)*
Hmdb Id: HMDB0008039
Super Pathway: NA
Sub Pathway: NA
Inchikey: FORFDCPQKJHEBF

Associated Genomic Regions

Region: rs174554

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Clumped rQTL variant

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SNP Summary

Chr:
11
Beta (Ratio):
-0.275
Position:
61579463
SE (Ratio):
0.017
Effect Allele:
G
Z-score (Ratio):
-16.624
Reference Allele:
A
-log10(P):
-141.222
MAF:
0.337
Beta (Num):
-0.047
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.227
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

Region: rs7412

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.223
Position:
45412079
SE (Ratio):
0.028
Effect Allele:
T
Z-score (Ratio):
-7.893
Reference Allele:
C
-log10(P):
-33.456
MAF:
0.084
Beta (Num):
-0.135
Novel Locus:
Yes ✔️
SE (Num):
0.026
Beta (Den):
0.088
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.9[1], 10[2], 11[3]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism.12[1], 13[2]

Ratio Explanation:

This ratio may reflect the balance between structural lipid synthesis (sphingomyelin) and phospholipid metabolism, influenced by FADS1/2-mediated fatty acid availability and APOE-regulated lipid transport.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in APOE and FADS1/FADS2 alters lipid transport and fatty acid metabolism, influencing the balance of sphingomyelins and phosphatidylcholines. This dysregulation is linked to hypercholesterolaemia, lipoprotein metabolism disorders, and increased risk for cardiovascular diseases like angina and myocardial infarction.14[1], 15[2], 16[3], 17[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