n-palmitoyl-sphingosine (d18:1/16:0) to 1-(1-enyl-palmitoyl)-2-linoleoyl-gpc (p-16:0/18:2)*

Numerator 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

Denominator Metabolite

Structure of 1-(1-enyl-palmitoyl)-2-linoleoyl-gpc (p-16:0/18:2)*
Metabolite Accession: GCST90200060
Name: 1-(1-enyl-palmitoyl)-2-linoleoyl-gpc (p-16:0/18:2)*
Hmdb Id: HMDB0011211
Super Pathway: NA
Sub Pathway: NA
Inchikey: QLEHHUPUHJPURI

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):
0.248
Position:
116648917
SE (Ratio):
0.030
Effect Allele:
G
Z-score (Ratio):
8.289
Reference Allele:
C
-log10(P):
-36.708
MAF:
0.131
Beta (Num):
0.132
Novel Locus:
Yes ✔️
SE (Num):
0.023
Beta (Den):
-0.117
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 biosynthesis.5[1], 6[2], 7[3], 8[4]

Denominator Metabolite Explanation:

Plasmalogen biosynthesis / Ether lipid metabolism.9[1], 10[2], 11[3]

Ratio Explanation:

The ratio reflects the balance of circulating sphingolipids and ether lipids, which are transported by lipoproteins and regulated by apolipoproteins like APOA5.1[1], 12[2], 13[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Variants in the APOA1/C3/A4/A5 gene cluster alter lipoprotein metabolism, affecting the balance of circulating lipids like ceramides and plasmalogens.14[1], 15[2], 16[3] This dyslipidemia is a direct cause of hypercholesterolemia and associated cardiovascular diseases like myocardial infarction and atherosclerosis.17[4], 4[5], 18[6], 19[7]

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