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

Numerator Metabolite

Structure of sphingomyelin (d18:1/18:1, d18:2/18:0)
Metabolite Accession: GCST90199878
Name: sphingomyelin (d18:1/18:1, d18:2/18:0)
Hmdb Id: HMDB0012101
Super Pathway: NA
Sub Pathway: NA
Inchikey: NBEADXWAAWCCDG

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: rs174567

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):
-0.277
Position:
61593005
SE (Ratio):
0.022
Effect Allele:
G
Z-score (Ratio):
-12.821
Reference Allele:
A
-log10(P):
-84.968
MAF:
0.346
Beta (Num):
-0.111
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.166
SE (Den):
0.016
No CNV overlap
rQTL cluster:
Reaction Distance:
NA
Closest Genes:

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism, ceramide synthesis.4[1], 5[2], 6[3], 7[4], 8[5]

Denominator Metabolite Explanation:

Ether lipid metabolism, plasmalogen biosynthesis.9[1], 10[2], 11[3], 12[4], 13[5]

Ratio Explanation:

This ratio may reflect FADS enzyme activity, contrasting the balance of fatty acids incorporated into sphingolipids versus plasmalogens, key components of cellular membranes.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters desaturase activity, impacting the balance of fatty acids essential for complex lipid synthesis.14[1], 15[2] This shift affects membrane composition and inflammatory signaling, likely contributing to dyslipidemia, cholelithiasis, and type 2 diabetes.16[3], 17[4], 18[5], 15[6]

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