n-palmitoyl-sphingosine (d18:1/16:0) to sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*

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

Metabolite Accession: GCST90200013
Name: sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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):
0.234
Position:
116648917
SE (Ratio):
0.026
Effect Allele:
G
Z-score (Ratio):
8.888
Reference Allele:
C
-log10(P):
-41.924
MAF:
0.131
Beta (Num):
0.132
Novel Locus:
Yes ✔️
SE (Num):
0.023
Beta (Den):
-0.102
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, Ceramide synthesis2[1]

Denominator Metabolite Explanation:

Sphingolipid metabolism, Sphingomyelin synthesis3[1]

Ratio Explanation:

This ratio of precursor ceramide to its product sphingomyelin indicates sphingolipid metabolic flux, likely reflecting the lipid composition of circulating lipoproteins.4[1]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in the APOA1/A5/C3 cluster alter lipoprotein metabolism, affecting the transport of sphingolipids which is reflected by the ratio.5[1], 6[2] This dysregulation is associated with dyslipidemia, atherosclerosis, and myocardial infarction.7[3], 8[4]

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