1-(1-enyl-stearoyl)-gpe (p-18:0)* to sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*

Numerator Metabolite

Metabolite Accession: GCST90199910
Name: 1-(1-enyl-stearoyl)-gpe (p-18:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200013
Name: sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs174560

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):
-0.197
Position:
61581764
SE (Ratio):
0.021
Effect Allele:
C
Z-score (Ratio):
-9.440
Reference Allele:
T
-log10(P):
-47.039
MAF:
0.308
Beta (Num):
-0.125
Novel Locus:
No
SE (Num):
0.017
Beta (Den):
0.072
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Plasmalogen synthesis.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism / Ceramide synthesis.7[1], 8[2], 9[3]

Ratio Explanation:

This ratio indicates the balance between plasmalogen and sphingomyelin synthesis, a process influenced by the FADS-mediated desaturation of shared fatty acid precursors.3[1], 10[2]

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 balance of lipid species.3[1], 10[2] This dysregulation is linked to disorders of lipid metabolism, such as hypercholesterolemia and cholelithiasis, and inflammatory conditions like asthma, by altering cell membrane composition and inflammatory mediator production.10[3], 11[4], 12[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