1-palmitoyl-2-docosahexaenoyl-gpc (16:0/22:6) to sphingomyelin (d18:2/24:2)*

Numerator Metabolite

Structure of 1-palmitoyl-2-docosahexaenoyl-gpc (16:0/22:6)
Metabolite Accession: GCST90200043
Name: 1-palmitoyl-2-docosahexaenoyl-gpc (16:0/22:6)
Hmdb Id: HMDB0007991
Super Pathway: NA
Sub Pathway: NA
Inchikey: IESVDEZGAHUQJU

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

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
11
Beta (Ratio):
0.232
Position:
116648917
SE (Ratio):
0.029
Effect Allele:
G
Z-score (Ratio):
7.935
Reference Allele:
C
-log10(P):
-33.793
MAF:
0.131
Beta (Num):
0.119
Novel Locus:
Yes ✔️
SE (Num):
0.022
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, Phosphatidylcholine biosynthesis.4[1], 5[2], 6[3], 7[4]

Denominator Metabolite Explanation:

Sphingolipid metabolism.8[1]

Ratio Explanation:

The ratio of phosphatidylcholine to sphingomyelin may reflect the composition and fluidity of lipoproteins, which is influenced by the function of apolipoprotein genes.9[1], 10[2], 11[3]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in apolipoprotein genes like APOA1 and APOA5 alter lipoprotein metabolism, influencing the PC/SM ratio within these particles.1[1], 9[2] This dysregulation is a known causal factor for various forms of cardiovascular disease, including hypercholesterolemia, atherosclerosis, and myocardial infarction, which are the observed phenotypes.12[3], 13[4], 14[5]

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