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

Numerator Metabolite

Metabolite Accession: GCST90200040
Name: sphingomyelin (d18:2/24:1, d18:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-(1-enyl-stearoyl)-2-linoleoyl-gpe (p-18:0/18:2)*
Metabolite Accession: GCST90200076
Name: 1-(1-enyl-stearoyl)-2-linoleoyl-gpe (p-18:0/18:2)*
Hmdb Id: HMDB0011376
Super Pathway: NA
Sub Pathway: NA
Inchikey: XVXISDREVDGQPX

Associated Genomic Regions

Region: rs174580

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):
-0.241
Position:
61606642
SE (Ratio):
0.020
Effect Allele:
G
Z-score (Ratio):
-12.175
Reference Allele:
A
-log10(P):
-76.852
MAF:
0.350
Beta (Num):
-0.076
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.166
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FADS3 FEN1 TMEM258

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid synthesis8[1], 9[2], 10[3], 11[4], 12[5]

Denominator Metabolite Explanation:

Plasmalogen synthesis13[1], 14[2], 15[3], 16[4], 17[5]

Ratio Explanation:

This ratio reflects the balance between sphingolipid and plasmalogen synthesis, both influenced by the availability of polyunsaturated fatty acids regulated by FADS enzymes.18[1], 19[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1/2 variants alter polyunsaturated fatty acid metabolism, influencing the composition of complex lipids like sphingomyelins and plasmalogens.20[1], 21[2], 22[3], 23[4], 24[5], 18[6] This dysregulation is associated with altered lipid profiles and an increased risk for hypercholesterolemia, cholelithiasis, and cardiovascular diseases.25[7], 26[8], 27[9], 24[10], 28[11]

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