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

Numerator Metabolite

Metabolite Accession: GCST90200040
Name: sphingomyelin (d18:2/24:1, d18:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator 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

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):
-0.231
Position:
116648917
SE (Ratio):
0.025
Effect Allele:
G
Z-score (Ratio):
-9.323
Reference Allele:
C
-log10(P):
-45.928
MAF:
0.131
Beta (Num):
-0.078
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
0.153
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], 6[3]

Denominator Metabolite Explanation:

Phosphatidylcholine biosynthesis.7[1], 8[2]

Ratio Explanation:

The ratio reflects the balance between sphingomyelin, a key component of cell membranes, and phosphatidylcholine, involved in lipid transport, both influenced by apolipoprotein levels.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered APOA1 function likely disrupts the balance of sphingomyelin and phosphatidylcholine, contributing to dyslipidemia and increasing the risk for atherosclerosis, myocardial infarction, and other cardiovascular diseases seen in the associated phenotypes.1[1], 9[2]

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