sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)* to 1-stearoyl-2-linoleoyl-gpi (18:0/18:2)

Numerator Metabolite

Structure of sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Metabolite Accession: GCST90200010
Name: sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Hmdb Id: HMDB0012104
Super Pathway: NA
Sub Pathway: NA
Inchikey: VBFKEZGCUWHGSK

Denominator Metabolite

Structure of 1-stearoyl-2-linoleoyl-gpi (18:0/18:2)
Metabolite Accession: GCST90200067
Name: 1-stearoyl-2-linoleoyl-gpi (18:0/18:2)
Hmdb Id: HMDB0009809
Super Pathway: NA
Sub Pathway: NA
Inchikey: KZVRAFHIKMDULK

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):
-0.309
Position:
61557803
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
-16.382
Reference Allele:
T
-log10(P):
-137.211
MAF:
0.346
Beta (Num):
-0.106
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.203
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 biosynthesis.3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Glycosylphosphatidylinositol (GPI)-anchor biosynthesis.6[1], 7[2], 8[3]

Ratio Explanation:

This ratio reflects FADS1/FADS2 activity, which alters fatty acid availability for both sphingomyelin and GPI-anchor synthesis, thereby impacting complex lipid composition.6[1]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

FADS1/FADS2 variants alter PUFA metabolism, affecting the composition of sphingomyelins and GPI anchors. This dysregulation of lipid mediators is linked to dyslipidemia and inflammatory phenotypes like asthma.9[1], 10[2], 11[3]

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