hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to 1-(1-enyl-palmitoyl)-2-arachidonoyl-gpc (p-16:0/20:4)*

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-arachidonoyl-gpc (p-16:0/20:4)*
Metabolite Accession: GCST90200052
Name: 1-(1-enyl-palmitoyl)-2-arachidonoyl-gpc (p-16:0/20:4)*
Hmdb Id: HMDB0011220
Super Pathway: NA
Sub Pathway: NA
Inchikey: IOYKZPNDXIIXLN

Associated Genomic Regions

Region: rs174564

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):
0.751
Position:
61588305
SE (Ratio):
0.022
Effect Allele:
G
Z-score (Ratio):
34.453
Reference Allele:
A
-log10(P):
-597.271
MAF:
0.344
Beta (Num):
0.277
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.475
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.5[1], 6[2]

Denominator Metabolite Explanation:

Plasmalogen synthesis, glycerophospholipid metabolism.7[1], 8[2]

Ratio Explanation:

The ratio reflects the balance between sphingolipid and plasmalogen synthesis, influenced by FADS desaturase activity on their fatty acid precursors.1[1], 2[2], 9[3], 5[4], 7[5]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters fatty acid desaturation, affecting the balance of lipid species like sphingomyelins and plasmalogens. This dysregulation of lipid metabolism is associated with an increased risk of pure hypercholesterolaemia and cholelithiasis.10[1], 11[2], 12[3], 13[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