1-stearoyl-2-linoleoyl-gpc (18:0/18:2)* to sphingomyelin (d18:1/20:1, d18:2/20:0)*

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: GCST90199996
Name: sphingomyelin (d18:1/20:1, d18:2/20:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs102275

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):
0.343
Position:
61557803
SE (Ratio):
0.020
Effect Allele:
C
Z-score (Ratio):
17.394
Reference Allele:
T
-log10(P):
-154.364
MAF:
0.347
Beta (Num):
0.220
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.123
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:

Glycerophospholipid metabolism, Fatty acid biosynthesis.4[1], 5[2]

Denominator Metabolite Explanation:

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

Ratio Explanation:

This ratio reflects FADS1/FADS2 activity, which alters the balance of polyunsaturated fatty acids available for incorporation into different lipid classes like glycerophospholipids and sphingolipids.1[1], 9[2], 10[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1/FADS2 variants alter polyunsaturated fatty acid metabolism, influencing the composition of lipids like phosphatidylcholines and sphingomyelins.10[1], 11[2] This dysregulation of lipid metabolism is associated with an increased risk for hypercholesterolemia, cholelithiasis, and inflammatory conditions.12[3], 13[4], 14[5], 15[6]

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