sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)* to 1-stearoyl-2-arachidonoyl-gpi (18:0/20:4)

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-stearoyl-2-arachidonoyl-gpi (18:0/20:4)
Metabolite Accession: GCST90199649
Name: 1-stearoyl-2-arachidonoyl-gpi (18:0/20:4)
Hmdb Id: HMDB0009815
Super Pathway: NA
Sub Pathway: NA
Inchikey: KRTOMQDUKGRFDJ

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):
0.433
Position:
61549025
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
19.859
Reference Allele:
G
-log10(P):
-200.398
MAF:
0.338
Beta (Num):
0.186
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.247
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 metabolism, Ceramide synthesis.3[1], 4[2]

Denominator Metabolite Explanation:

GPI anchor biosynthesis, Glycerophospholipid metabolism.5[1], 6[2]

Ratio Explanation:

The ratio reflects FADS1 activity, partitioning polyunsaturated fatty acids between sphingomyelin and GPI-anchor synthesis, which are both crucial cell membrane components.7[1], 8[2], 5[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

FADS1 variants alter polyunsaturated fatty acid metabolism, which this ratio reflects.9[1], 10[2] This dysregulation affects inflammatory responses and lipid profiles, contributing to phenotypes like hypercholesterolemia, cholelithiasis, and asthma by altering inflammatory mediators and membrane composition.11[3], 12[4], 9[5], 10[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