palmitoyl dihydrosphingomyelin (d18:0/16:0)* to n-palmitoyl-sphinganine (d18:0/16:0)

Numerator Metabolite

Structure of palmitoyl dihydrosphingomyelin (d18:0/16:0)*
Metabolite Accession: GCST90200035
Name: palmitoyl dihydrosphingomyelin (d18:0/16:0)*
Hmdb Id: HMDB0010168
Super Pathway: NA
Sub Pathway: NA
Inchikey: QHZIGNLCLJPLCU

Denominator Metabolite

Structure of n-palmitoyl-sphinganine (d18:0/16:0)
Metabolite Accession: GCST90200064
Name: n-palmitoyl-sphinganine (d18:0/16:0)
Hmdb Id: HMDB11760
Super Pathway: NA
Sub Pathway: NA
Inchikey: GCGTXOVNNFGTPQ

Associated Genomic Regions

Region: rs7412

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.277
Position:
45412079
SE (Ratio):
0.029
Effect Allele:
T
Z-score (Ratio):
-9.454
Reference Allele:
C
-log10(P):
-47.172
MAF:
0.084
Beta (Num):
-0.142
Novel Locus:
Yes ✔️
SE (Num):
0.027
Beta (Den):
0.136
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 metabolism8[1], 9[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism, De novo ceramide synthesis10[1], 11[2], 12[3]

Ratio Explanation:

This ratio reflects the conversion of N-palmitoyl-sphinganine (dihydroceramide) to palmitoyl dihydrosphingomyelin via sphingomyelin synthase, a key step in sphingolipid metabolism influenced by APOE's lipid transport role.13[1], 14[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

APOE variants influence systemic lipid transport, which alters the balance of sphingolipids, including the ratio between dihydroceramides and dihydrosphingomyelins.15[1], 14[2], 16[3] This altered lipid metabolism is strongly associated with cardiovascular phenotypes like myocardial infarction and hypercholesterolemia.17[4], 18[5], 19[6]

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