stearoyl sphingomyelin (d18:1/18:0) to n-palmitoyl-sphingosine (d18:1/16:0)

Numerator Metabolite

Structure of stearoyl sphingomyelin (d18:1/18:0)
Metabolite Accession: GCST90200335
Name: stearoyl sphingomyelin (d18:1/18:0)
Hmdb Id: HMDB0001348
Super Pathway: NA
Sub Pathway: NA
Inchikey: LKQLRGMMMAHREN

Denominator 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

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):
-0.210
Position:
116648917
SE (Ratio):
0.026
Effect Allele:
G
Z-score (Ratio):
-8.073
Reference Allele:
C
-log10(P):
-34.918
MAF:
0.131
Beta (Num):
-0.078
Novel Locus:
Yes ✔️
SE (Num):
0.022
Beta (Den):
0.132
SE (Den):
0.023
No CNV overlap
rQTL cluster:
248
Reaction Distance:
NA
Closest Genes:
ZNF259 BUD13 APOA5 APOA4 APOC3

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.3[1], 4[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.3[1], 5[2]

Ratio Explanation:

The ratio reflects sphingolipid metabolism. An altered ratio may be influenced by APOA1's role in lipid transport, including sphingolipids, impacting cardiovascular health.6[1], 7[2], 8[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered APOA1 function likely influences sphingolipid transport and metabolism, contributing to an atherogenic lipid profile, including changes in sphingomyelin and ceramide species. This dysregulation is associated with hypercholesterolemia and an increased risk of various cardiovascular diseases, including atherosclerosis and myocardial infarction.1[1], 9[2], 6[3], 10[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