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

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-palmitoleoyl-gpc (p-16:0/16:1)*
Metabolite Accession: GCST90200070
Name: 1-(1-enyl-palmitoyl)-2-palmitoleoyl-gpc (p-16:0/16:1)*
Hmdb Id: HMDB0011207
Super Pathway: NA
Sub Pathway: NA
Inchikey: FZMYLOBGNYZPQO

Associated Genomic Regions

Region: rs174566

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):
0.184
Position:
61592362
SE (Ratio):
0.018
Effect Allele:
G
Z-score (Ratio):
10.328
Reference Allele:
A
-log10(P):
-55.908
MAF:
0.345
Beta (Num):
0.079
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.105
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS1 FADS2 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Plasmalogen biosynthesis.6[1]

Ratio Explanation:

The ratio reflects the balance between specific sphingomyelin and plasmalogen species, likely influenced by FADS1/FADS2-mediated desaturation of their fatty acid components.1[1], 2[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered FADS1/FADS2 activity, indicated by eQTL colocalization, likely modifies the fatty acid composition of both sphingolipids and plasmalogens.1[1], 2[2] This dysregulation of lipid metabolism is associated with various phenotypes, including valvular heart disease and disorders of lipoprotein metabolism.7[3], 8[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