sphingomyelin (d18:1/20:0, d16:1/22:0)* to linoleoyl-arachidonoyl-glycerol (18:2/20:4) [2]*

Numerator Metabolite

Structure of sphingomyelin (d18:1/20:0, d16:1/22:0)*
Metabolite Accession: GCST90200001
Name: sphingomyelin (d18:1/20:0, d16:1/22:0)*
Hmdb Id: HMDB0012102
Super Pathway: NA
Sub Pathway: NA
Inchikey: AADLTHQNYQJHQV

Denominator Metabolite

Structure of linoleoyl-arachidonoyl-glycerol (18:2/20:4) [2]*
Metabolite Accession: GCST90200109
Name: linoleoyl-arachidonoyl-glycerol (18:2/20:4) [2]*
Hmdb Id: HMDB0007257
Super Pathway: NA
Sub Pathway: NA
Inchikey: KRECEGQUDDMNAQ

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):
-0.435
Position:
45412079
SE (Ratio):
0.038
Effect Allele:
T
Z-score (Ratio):
-11.459
Reference Allele:
C
-log10(P):
-68.322
MAF:
0.084
Beta (Num):
-0.192
Novel Locus:
No
SE (Num):
0.027
Beta (Den):
0.243
SE (Den):
0.029
No CNV overlap
rQTL cluster:
8
Reaction Distance:
NA
Closest Genes:
APOE TOMM40 APOC1 PVRL2 APOC4

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.8[1], 9[2], 10[3], 11[4]

Denominator Metabolite Explanation:

Glycerolipid metabolism.12[1], 13[2], 14[3], 15[4]

Ratio Explanation:

This ratio reflects lipoprotein particle composition; a higher value suggests a shift from triglyceride precursors (diacylglycerol) to sphingomyelins, potentially due to impaired lipoprotein clearance.16[1], 17[2], 18[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in the APOC1/APOE cluster alters lipoprotein metabolism.3[1], 19[2] This dysregulation, reflected in the sphingomyelin/diacylglycerol ratio, promotes dyslipidemia and the development of coronary atherosclerosis, cholelithiasis, and myocardial infarction by affecting circulating lipid composition and clearance.4[3], 19[4]

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