sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)* to 1-(1-enyl-palmitoyl)-2-arachidonoyl-gpc (p-16:0/20:4)*

Numerator Metabolite

Metabolite Accession: GCST90199995
Name: sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-(1-enyl-palmitoyl)-2-arachidonoyl-gpc (p-16:0/20:4)*
Metabolite Accession: GCST90200052
Name: 1-(1-enyl-palmitoyl)-2-arachidonoyl-gpc (p-16:0/20:4)*
Hmdb Id: HMDB0011220
Super Pathway: NA
Sub Pathway: NA
Inchikey: IOYKZPNDXIIXLN

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):
0.655
Position:
61557803
SE (Ratio):
0.020
Effect Allele:
C
Z-score (Ratio):
32.128
Reference Allele:
T
-log10(P):
-519.805
MAF:
0.346
Beta (Num):
0.179
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.476
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism3[1], 4[2]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism, Ether phospholipid metabolism5[1], 6[2]

Ratio Explanation:

The ratio reflects the balance between sphingomyelin and arachidonic acid-containing ether phospholipid pools, potentially regulated by FADS1 activity on the denominator.1[1], 6[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1 gene variants likely alter fatty acid desaturation, affecting the balance between sphingomyelin and arachidonic acid-containing phospholipids.7[1], 8[2] This dyslipidemia and altered inflammatory precursor availability contribute to the risk of cholelithiasis, hypercholesterolemia, and inflammatory diseases like asthma and IBD.9[3], 10[4], 11[5], 12[6]

Phenotype Driver:

Gene-centric:FADS1

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