n-palmitoyl-sphingosine (d18:1/16:0) to sphingomyelin (d18:2/24:2)*

Numerator Metabolite

Structure of n-palmitoyl-sphingosine (d18:1/16:0)
Metabolite Accession: GCST90200336
Name: n-palmitoyl-sphingosine (d18:1/16:0)
Hmdb Id: HMDB0004949
Super Pathway: NA
Sub Pathway: NA
Inchikey: YDNKGFDKKRUKPY

Denominator Metabolite

Structure of sphingomyelin (d18:2/24:2)*
Metabolite Accession: GCST90200124
Name: sphingomyelin (d18:2/24:2)*
Hmdb Id: HMDB0240644
Super Pathway: NA
Sub Pathway: NA
Inchikey: LAWJSGKLPKMOGG

Associated Genomic Regions

Region: rs964184

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:
11
Beta (Ratio):
0.245
Position:
116648917
SE (Ratio):
0.028
Effect Allele:
G
Z-score (Ratio):
8.774
Reference Allele:
C
-log10(P):
-40.903
MAF:
0.131
Beta (Num):
0.132
Novel Locus:
Yes ✔️
SE (Num):
0.023
Beta (Den):
-0.113
SE (Den):
0.021
No CNV overlap
rQTL cluster:
248
Reaction Distance:
NA
Closest Genes:
ZNF259 BUD13 APOA5 APOA4 APOC3

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.5[1], 6[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.7[1], 8[2], 9[3]

Ratio Explanation:

An elevated ratio of n-palmitoyl-sphingosine to sphingomyelin may indicate increased ceramide production or decreased conversion to sphingomyelin, impacting lipid signaling and membrane structure.10[1], 8[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Alterations in APOA1 function can disrupt HDL metabolism and cholesterol transport.1[1], 2[2], 3[3], 4[4] This dysregulation, combined with changes in sphingolipid metabolism indicated by the ceramide to sphingomyelin ratio, is associated with hypercholesterolemia and an increased risk of cardiovascular diseases like atherosclerosis and myocardial infarction.

Phenotype Driver:

Gene-centric:APOA1

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