palmitoyl-sphingosine-phosphoethanolamine (d18:1/16:0) to hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))**

Numerator Metabolite

Metabolite Accession: GCST90200237
Name: palmitoyl-sphingosine-phosphoethanolamine (d18:1/16:0)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200243
Name: hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))**
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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):
-0.296
Position:
61588305
SE (Ratio):
0.014
Effect Allele:
G
Z-score (Ratio):
-21.809
Reference Allele:
A
-log10(P):
-241.119
MAF:
0.343
Beta (Num):
-0.019
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.277
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 metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.6[1], 7[2], 8[3]

Ratio Explanation:

The ratio reflects the balance between two sphingolipid species; its alteration, influenced by FADS1/FADS2 activity, may indicate shifts in lipid metabolic pathways.1[1], 9[2], 10[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Altered FADS1/FADS2 function, as indicated by the eQTL colocalization, likely modifies sphingolipid metabolism.1[1], 2[2], 3[3] This change is associated with an increased risk for cholelithiasis and dyslipidemia, potentially by affecting bile composition and lipoprotein metabolism.11[4], 12[5], 13[6], 14[7], 15[8]

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