hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to 1-(1-enyl-palmitoyl)-2-palmitoyl-gpc (p-16:0/16:0)*

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 1-(1-enyl-palmitoyl)-2-palmitoyl-gpc (p-16:0/16:0)*
Metabolite Accession: GCST90200083
Name: 1-(1-enyl-palmitoyl)-2-palmitoyl-gpc (p-16:0/16:0)*
Hmdb Id: HMDB0011206
Super Pathway: NA
Sub Pathway: NA
Inchikey: PEWXKAOBUSBJLD

Associated Genomic Regions

Region: rs174547

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):
0.444
Position:
61570783
SE (Ratio):
0.016
Effect Allele:
C
Z-score (Ratio):
27.308
Reference Allele:
T
-log10(P):
-376.394
MAF:
0.340
Beta (Num):
0.278
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.165
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis.3[1]

Denominator Metabolite Explanation:

Plasmalogen (ether phospholipid) biosynthesis.4[1], 5[2], 6[3]

Ratio Explanation:

The ratio reflects precursor allocation between sphingolipid and ether lipid synthesis, modulated by FADS activity which alters fatty acid availability for both pathways.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Variants in FADS1/FADS2 alter polyunsaturated fatty acid levels, impacting the composition of complex lipids like sphingomyelins and plasmalogens.1[1] This dysregulation of lipid metabolism is linked to hypercholesterolemia and an increased risk for cholesterol gallstone (cholelithiasis) formation.7[2], 8[3], 9[4]

Phenotype Driver:

Gene-centric:FADS1/FADS2

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