sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)* to n-palmitoyl-heptadecasphingosine (d17:1/16:0)*

Numerator 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

Denominator Metabolite

Metabolite Accession: GCST90200115
Name: n-palmitoyl-heptadecasphingosine (d17:1/16:0)*
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):
-0.212
Position:
116648917
SE (Ratio):
0.026
Effect Allele:
G
Z-score (Ratio):
-8.158
Reference Allele:
C
-log10(P):
-35.616
MAF:
0.131
Beta (Num):
-0.102
Novel Locus:
Yes ✔️
SE (Num):
0.021
Beta (Den):
0.110
SE (Den):
0.024
No CNV overlap
rQTL cluster:
248
Reaction Distance:
NA
Closest Genes:
ZNF259 BUD13 APOA5 APOA4 APOC3

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism3[1]

Denominator Metabolite Explanation:

Sphingolipid metabolism4[1], 3[2]

Ratio Explanation:

This ratio reflects sphingomyelin and ceramide homeostasis.5[1] The associated apolipoproteins transport these lipids, influencing their circulating levels and the development of dyslipidemia.6[2], 7[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in the APOA1/C3/A4/A5 cluster alters lipoprotein metabolism, affecting the balance of circulating sphingomyelin and ceramide.1[1], 8[2], 6[3] This dyslipidemia is a primary risk factor for atherosclerosis and subsequent cardiovascular events like myocardial infarction and valvular heart disease.9[4], 7[5], 10[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