sphingomyelin (d18:2/14:0, d18:1/14:1)* to 1-(1-enyl-stearoyl)-2-linoleoyl-gpe (p-18:0/18:2)*

Numerator Metabolite

Metabolite Accession: GCST90199975
Name: sphingomyelin (d18:2/14:0, d18:1/14:1)*
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: 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):
-0.254
Position:
61606642
SE (Ratio):
0.018
Effect Allele:
G
Z-score (Ratio):
-13.893
Reference Allele:
A
-log10(P):
-99.365
MAF:
0.351
Beta (Num):
-0.089
Novel Locus:
No
SE (Num):
0.013
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 metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Plasmalogen biosynthesis.6[1], 7[2]

Ratio Explanation:

The ratio reflects the activity of FADS enzymes, which produce polyunsaturated fatty acids that are incorporated into both sphingomyelins and ether lipids.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1/FADS2 alter fatty acid desaturase activity, influencing the composition of complex lipids.8[1], 9[2], 10[3] This dysregulation of lipid metabolism is associated with an increased risk for cholelithiasis, hypercholesterolemia, and type 2 diabetes.11[4], 12[5], 13[6], 14[7]

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