hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to 1-(1-enyl-stearoyl)-2-arachidonoyl-gpe (p-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-(1-enyl-stearoyl)-2-arachidonoyl-gpe (p-18:0/20:4)*
Metabolite Accession: GCST90200058
Name: 1-(1-enyl-stearoyl)-2-arachidonoyl-gpe (p-18:0/20:4)*
Hmdb Id: HMDB0005779
Super Pathway: NA
Sub Pathway: NA
Inchikey: URPXXNCTXCOATD

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):
0.566
Position:
61570783
SE (Ratio):
0.023
Effect Allele:
C
Z-score (Ratio):
25.137
Reference Allele:
T
-log10(P):
-319.375
MAF:
0.340
Beta (Num):
0.278
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.288
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 metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Plasmalogen biosynthesis, glycerophospholipid metabolism.6[1], 7[2]

Ratio Explanation:

The ratio of hydroxypalmitoyl sphingomyelin to arachidonoyl-GPE may reflect the activity of FADS2, which is essential for producing the arachidonic acid in the denominator.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS2 gene variants likely alter enzyme activity, affecting the balance of polyunsaturated fatty acids and sphingolipids. This dysregulation can influence inflammatory and cell growth pathways, contributing to phenotypes like cholelithiasis and benign colon neoplasms, where FADS2 expression is often altered.8[1], 9[2], 10[3]

Phenotype Driver:

Gene-centric: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