1-palmitoyl-2-stearoyl-gpc (16:0/18:0) to sphingomyelin (d18:2/24:2)*

Numerator Metabolite

Structure of 1-palmitoyl-2-stearoyl-gpc (16:0/18:0)
Metabolite Accession: GCST90200041
Name: 1-palmitoyl-2-stearoyl-gpc (16:0/18:0)
Hmdb Id: HMDB0007970
Super Pathway: NA
Sub Pathway: NA
Inchikey: PZNPLUBHRSSFHT

Denominator Metabolite

Structure of sphingomyelin (d18:2/24:2)*
Metabolite Accession: GCST90200124
Name: sphingomyelin (d18:2/24:2)*
Hmdb Id: HMDB0240644
Super Pathway: NA
Sub Pathway: NA
Inchikey: LAWJSGKLPKMOGG

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):
0.266
Position:
116648917
SE (Ratio):
0.027
Effect Allele:
G
Z-score (Ratio):
9.690
Reference Allele:
C
-log10(P):
-49.452
MAF:
0.131
Beta (Num):
0.153
Novel Locus:
No
SE (Num):
0.023
Beta (Den):
-0.113
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:

Glycerophospholipid metabolism

Denominator Metabolite Explanation:

Sphingolipid metabolism.6[1], 7[2]

Ratio Explanation:

The ratio reflects the balance of two major lipid components of lipoproteins. Alterations in apolipoprotein function likely impact this balance, influencing lipoprotein particle composition.8[1], 9[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in the APOA5/A1 gene cluster alters lipoprotein metabolism, affecting the phosphatidylcholine to sphingomyelin ratio.8[1] This dysregulation is associated with an increased risk for hypercholesterolemia, myocardial infarction, and other cardiovascular diseases linked to lipoprotein and lipid abnormalities.10[2], 11[3], 12[4]

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