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

Numerator 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

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: rs174601

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):
-0.214
Position:
61623140
SE (Ratio):
0.018
Effect Allele:
T
Z-score (Ratio):
-12.169
Reference Allele:
C
-log10(P):
-76.771
MAF:
0.374
Beta (Num):
-0.058
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.155
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS3 FADS1 RAB3IL1 FEN1

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism, Ether lipid metabolism.

Ratio Explanation:

The ratio reflects the balance between sphingolipid and ether lipid synthesis, modulated by FADS1 which influences the desaturation of fatty acids incorporated into these complex lipids.6[1]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1 gene variants are associated with altered polyunsaturated fatty acid levels, which affects the composition of both sphingomyelins and plasmalogens. This alteration in lipid metabolism is linked to cholelithiasis, likely through changes in cholesterol and lipoprotein metabolism.6[1], 7[2], 8[3], 9[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