sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)* to 1-(1-enyl-palmitoyl)-2-oleoyl-gpc (p-16:0/18:1)*

Numerator Metabolite

Metabolite Accession: GCST90200013
Name: sphingomyelin (d18:1/22:2, d18:2/22:1, d16:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-(1-enyl-palmitoyl)-2-oleoyl-gpc (p-16:0/18:1)*
Metabolite Accession: GCST90200057
Name: 1-(1-enyl-palmitoyl)-2-oleoyl-gpc (p-16:0/18:1)*
Hmdb Id: HMDB0007996
Super Pathway: NA
Sub Pathway: NA
Inchikey: MPQGNHKVOVYEEN

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):
0.193
Position:
61557803
SE (Ratio):
0.018
Effect Allele:
C
Z-score (Ratio):
10.694
Reference Allele:
T
-log10(P):
-59.780
MAF:
0.347
Beta (Num):
0.073
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.120
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis

Denominator Metabolite Explanation:

Plasmalogen synthesis

Ratio Explanation:

The ratio reflects the balance between sphingolipid and ether phospholipid synthesis, modulated by FADS enzyme activity which influences the acyl chains of both lipid classes.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1/FADS2 variants alter enzyme activity, impacting the balance of sphingolipids and plasmalogens. This dysregulation of lipid metabolism is associated with an increased risk for hypercholesterolemia and cholelithiasis, as both involve altered lipid handling and transport.6[1], 7[2], 8[3], 9[4]

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