hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to 1-stearoyl-2-arachidonoyl-gpe (18:0/20:4)

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-stearoyl-2-arachidonoyl-gpe (18:0/20:4)
Metabolite Accession: GCST90200045
Name: 1-stearoyl-2-arachidonoyl-gpe (18:0/20:4)
Hmdb Id: HMDB0009003
Super Pathway: NA
Sub Pathway: NA
Inchikey: ANRKEHNWXKCXDB

Associated Genomic Regions

Region: rs174568

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):
0.506
Position:
61593816
SE (Ratio):
0.026
Effect Allele:
T
Z-score (Ratio):
19.376
Reference Allele:
C
-log10(P):
-190.909
MAF:
0.339
Beta (Num):
0.281
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.224
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid synthesis/metabolism.2[1], 3[2]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism.4[1]

Ratio Explanation:

The ratio reflects the balance between sphingolipid and glycerophospholipid synthesis, influenced by FADS1/FADS2 activity which primarily affects the arachidonoyl-containing denominator.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1/FADS2 gene variants alter the efficiency of polyunsaturated fatty acid synthesis, including arachidonic acid (20:4).5[1] This impacts the denominator of the ratio and is associated with altered plasma lipid profiles, including cholesterol, linking the gene to hypercholesterolemia.6[2], 7[3], 8[4], 9[5]

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