1-stearoyl-2-linoleoyl-gpc (18:0/18:2)* to sphingomyelin (d18:2/16:0, d18:1/16:1)*

Numerator Metabolite

Structure of 1-stearoyl-2-linoleoyl-gpc (18:0/18:2)*
Metabolite Accession: GCST90200037
Name: 1-stearoyl-2-linoleoyl-gpc (18:0/18:2)*
Hmdb Id: HMDB0008039
Super Pathway: NA
Sub Pathway: NA
Inchikey: FORFDCPQKJHEBF

Denominator Metabolite

Metabolite Accession: GCST90199947
Name: sphingomyelin (d18:2/16:0, d18:1/16:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs102274

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):
0.275
Position:
61557826
SE (Ratio):
0.017
Effect Allele:
C
Z-score (Ratio):
16.463
Reference Allele:
T
-log10(P):
-138.542
MAF:
0.341
Beta (Num):
0.224
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.051
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Phosphatidylcholine biosynthesis6[1], 7[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism8[1], 9[2]

Ratio Explanation:

This ratio reflects the balance between glycerophospholipid and sphingolipid pathways, where FADS1/FADS2 activity influences the fatty acid composition of both lipid classes, impacting membrane fluidity and signaling.1[1], 10[2], 8[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1/FADS2 alter desaturase activity, affecting the composition of fatty acids in both phosphatidylcholines and sphingomyelins.10[1], 11[2] This dysregulation is linked to altered lipid metabolism, contributing to hypercholesterolemia and increasing the risk for cholelithiasis, partly due to changes in bile composition.12[3], 13[4], 14[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