n-stearoyl-sphingosine (d18:1/18:0)* to sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*

Numerator 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

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

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
11
Beta (Ratio):
0.207
Position:
116648917
SE (Ratio):
0.027
Effect Allele:
G
Z-score (Ratio):
7.704
Reference Allele:
C
-log10(P):
-31.957
MAF:
0.131
Beta (Num):
0.105
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 synthesis4[1]

Denominator Metabolite Explanation:

Sphingolipid metabolism, Sphingomyelin synthesis5[1], 6[2]

Ratio Explanation:

The ratio may reflect the balance between ceramide and sphingomyelin, which is crucial for cell membrane integrity and signaling, influenced by lipoprotein metabolism.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in APOA1 affect HDL cholesterol levels and function.1[1], 7[2] Altered lipoprotein metabolism can influence the balance of sphingolipids, including ceramides and sphingomyelins, which are associated with cardiovascular disease risk.8[3], 9[4], 10[5], 11[6]

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