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

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-palmitoyl-gpc (p-16:0/16:0)*
Metabolite Accession: GCST90200083
Name: 1-(1-enyl-palmitoyl)-2-palmitoyl-gpc (p-16:0/16:0)*
Hmdb Id: HMDB0011206
Super Pathway: NA
Sub Pathway: NA
Inchikey: PEWXKAOBUSBJLD

Associated Genomic Regions

Region: rs174547

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):
0.244
Position:
61570783
SE (Ratio):
0.017
Effect Allele:
C
Z-score (Ratio):
14.201
Reference Allele:
T
-log10(P):
-103.712
MAF:
0.340
Beta (Num):
0.079
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.165
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.5[1], 6[2]

Denominator Metabolite Explanation:

Plasmalogen biosynthesis, Glycerophospholipid metabolism.7[1]

Ratio Explanation:

The ratio of sphingomyelin to plasmalogen may reflect the balance between two distinct lipid synthesis pathways influenced by fatty acid availability from FADS1/FADS2 activity.3[1], 4[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered FADS1/FADS2 activity, influenced by genetic factors, likely shifts the balance of available fatty acids, impacting the relative synthesis of sphingomyelins and plasmalogens.3[1], 4[2] This dysregulation in lipid metabolism is associated with an increased risk for cholelithiasis and type 2 diabetes.8[3], 9[4], 10[5], 11[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