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

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-stearoyl-sphingosine (d18:1/18:0)*
Metabolite Accession: GCST90200341
Name: n-stearoyl-sphingosine (d18:1/18:0)*
Hmdb Id: HMDB0004950
Super Pathway: NA
Sub Pathway: NA
Inchikey: VODZWWMEJITOND

Associated Genomic Regions

Region: rs964184

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
11
Beta (Ratio):
-0.183
Position:
116648917
SE (Ratio):
0.021
Effect Allele:
G
Z-score (Ratio):
-8.875
Reference Allele:
C
-log10(P):
-41.805
MAF:
0.131
Beta (Num):
-0.078
Novel Locus:
Yes ✔️
SE (Num):
0.022
Beta (Den):
0.105
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.6[1], 7[2], 8[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism, Ceramide synthesis.9[1], 10[2], 11[3]

Ratio Explanation:

The ratio reflects the conversion of ceramide to sphingomyelin by sphingomyelin synthase.12[1], 13[2], 14[3], 15[4] Apolipoproteins likely influence this by transporting these lipids within lipoproteins.16[5], 17[6], 18[7]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in the apolipoprotein gene cluster (e.g., APOA5) alter lipoprotein metabolism.1[1], 3[2], 19[3], 4[4] This dysregulates sphingolipid transport, affecting the ratio and contributing to hypercholesterolemia, dyslipidemia, and increasing the risk of atherosclerotic cardiovascular diseases like myocardial infarction.1[5], 20[6]

Phenotype Driver:

Gene-centric:APOA5

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