n-palmitoyl-sphingosine (d18:1/16:0) to 1-stearoyl-2-arachidonoyl-gpi (18:0/20:4)

Numerator Metabolite

Structure of n-palmitoyl-sphingosine (d18:1/16:0)
Metabolite Accession: GCST90200336
Name: n-palmitoyl-sphingosine (d18:1/16:0)
Hmdb Id: HMDB0004949
Super Pathway: NA
Sub Pathway: NA
Inchikey: YDNKGFDKKRUKPY

Denominator Metabolite

Structure of 1-stearoyl-2-arachidonoyl-gpi (18:0/20:4)
Metabolite Accession: GCST90199649
Name: 1-stearoyl-2-arachidonoyl-gpi (18:0/20:4)
Hmdb Id: HMDB0009815
Super Pathway: NA
Sub Pathway: NA
Inchikey: KRTOMQDUKGRFDJ

Associated Genomic Regions

Region: rs174564

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
11
Beta (Ratio):
0.285
Position:
61588305
SE (Ratio):
0.016
Effect Allele:
G
Z-score (Ratio):
18.033
Reference Allele:
A
-log10(P):
-165.714
MAF:
0.343
Beta (Num):
0.039
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.246
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], 6[3]

Denominator Metabolite Explanation:

GPI anchor biosynthesis.7[1], 8[2], 9[3]

Ratio Explanation:

The ratio reflects FADS-mediated synthesis of arachidonic acid (a component of the denominator) versus ceramide (numerator) levels, linking fatty acid desaturation to lipid metabolism.2[1], 9[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1/FADS2 alter polyunsaturated fatty acid levels, impacting the balance between ceramides and GPI-anchors.2[1], 10[2], 11[3] This dysregulation of lipid metabolism affects membrane composition and signaling, contributing to lipoprotein disorders, cholelithiasis, and inflammatory conditions like asthma.12[4], 10[5], 13[6], 14[7]

Phenotype Driver:

Gene-centric:FADS1

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