sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)* to 1-linoleoyl-2-arachidonoyl-gpc (18:2/20:4n6)*

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-linoleoyl-2-arachidonoyl-gpc (18:2/20:4n6)*
Metabolite Accession: GCST90200073
Name: 1-linoleoyl-2-arachidonoyl-gpc (18:2/20:4n6)*
Hmdb Id: HMDB0008147
Super Pathway: NA
Sub Pathway: NA
Inchikey: ZZSZQATYGVHNLZ

Associated Genomic Regions

Region: rs102274

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):
0.483
Position:
61557826
SE (Ratio):
0.022
Effect Allele:
C
Z-score (Ratio):
22.343
Reference Allele:
T
-log10(P):
-252.939
MAF:
0.340
Beta (Num):
0.184
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.298
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.5[1], 6[2], 7[3], 8[4]

Denominator Metabolite Explanation:

Glycerophospholipid metabolism, Fatty acid metabolism.9[1], 10[2]

Ratio Explanation:

The ratio reflects FADS1 activity; lower FADS1 function decreases arachidonic acid (denominator), thus increasing the ratio of sphingomyelin to this specific phosphatidylcholine.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1 alter its enzymatic efficiency, impacting levels of arachidonic acid and its downstream inflammatory mediators.11[1], 12[2] This dysregulation of lipid metabolism is linked to phenotypes like hypercholesterolemia, type 2 diabetes, and cholelithiasis.13[3], 11[4], 14[5], 15[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