sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)* to docosatrienoate (22:3n6)*

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 docosatrienoate (22:3n6)*
Metabolite Accession: GCST90200138
Name: docosatrienoate (22:3n6)*
Hmdb Id: HMDB0002823
Super Pathway: NA
Sub Pathway: NA
Inchikey: WBBQTNCISCKUMU

Associated Genomic Regions

Region: rs174533

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):
0.380
Position:
61549025
SE (Ratio):
0.026
Effect Allele:
A
Z-score (Ratio):
14.521
Reference Allele:
G
-log10(P):
-108.331
MAF:
0.338
Beta (Num):
0.186
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.194
SE (Den):
0.021
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Polyunsaturated fatty acid biosynthesis.7[1], 8[2]

Ratio Explanation:

The ratio reflects FADS enzyme activity, linking polyunsaturated fatty acid synthesis (denominator) to the fatty acid composition of complex lipids like sphingomyelin (numerator).

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1/FADS2 alters polyunsaturated fatty acid metabolism, reflected by the sphingomyelin/docosatrienoate ratio. This dysregulated lipid metabolism and inflammation contributes to the risk of cardiometabolic diseases like hypercholesterolemia, cholelithiasis, and Type 2 diabetes.9[1], 10[2], 11[3], 12[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