n-palmitoyl-sphingosine (d18:1/16:0) to 1-palmitoyl-2-stearoyl-gpc (16:0/18:0)

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-palmitoyl-2-stearoyl-gpc (16:0/18:0)
Metabolite Accession: GCST90200041
Name: 1-palmitoyl-2-stearoyl-gpc (16:0/18:0)
Hmdb Id: HMDB0007970
Super Pathway: NA
Sub Pathway: NA
Inchikey: PZNPLUBHRSSFHT

Associated Genomic Regions

Region: rs174566

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):
0.252
Position:
61592362
SE (Ratio):
0.016
Effect Allele:
G
Z-score (Ratio):
15.512
Reference Allele:
A
-log10(P):
-123.289
MAF:
0.345
Beta (Num):
0.040
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.212
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:

Glycerophospholipid metabolism.6[1], 7[2]

Ratio Explanation:

This ratio may reflect the balance between sphingolipid and glycerophospholipid synthesis, which is influenced by FADS desaturase activity on shared fatty acid precursors.8[1], 9[2], 10[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters fatty acid desaturation, affecting the composition of complex lipids and lipoproteins.11[1], 12[2] This leads to dyslipidemia, a major risk factor for cholelithiasis and disorders of lipoprotein metabolism, which are associated phenotypes.12[3], 13[4]

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