hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to n-palmitoyl-sphingosine (d18:1/16:0)

Numerator Metabolite

Metabolite Accession: GCST90200243
Name: hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))**
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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):
-0.241
Position:
116648917
SE (Ratio):
0.027
Effect Allele:
G
Z-score (Ratio):
-8.940
Reference Allele:
C
-log10(P):
-42.393
MAF:
0.131
Beta (Num):
-0.110
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.4[1], 5[2]

Denominator Metabolite Explanation:

Sphingolipid de novo biosynthesis.6[1], 7[2], 8[3], 9[4]

Ratio Explanation:

The ratio may reflect the balance between ceramide synthesis and its subsequent conversion to more complex sphingolipids like sphingomyelin, which are transported by lipoproteins.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in apolipoprotein genes like APOA1 alter lipoprotein metabolism.1[1], 2[2], 3[3], 10[4] This dysregulation affects the transport of sphingolipids, including ceramides and sphingomyelins, which are linked to inflammation and plaque instability, thus contributing to cardiovascular diseases like atherosclerosis and myocardial infarction.11[5], 12[6], 13[7], 14[8], 15[9], 16[10]

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