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

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

Metabolite Accession: GCST90200077
Name: 1-stearoyl-2-oleoyl-gpi (18:0/18:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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):
-0.233
Position:
61557803
SE (Ratio):
0.020
Effect Allele:
C
Z-score (Ratio):
-11.527
Reference Allele:
T
-log10(P):
-69.112
MAF:
0.346
Beta (Num):
-0.106
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.127
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.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

GPI-anchor biosynthesis.7[1], 8[2], 9[3]

Ratio Explanation:

This ratio reflects the allocation of fatty acid precursors between sphingolipid and GPI-anchor synthesis, processes influenced by FADS1/FADS2 activity.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Genetic variation in FADS1 alters fatty acid metabolism, reflected in the sphingomyelin/GPI ratio.1[1], 10[2] This dysregulation impacts lipid-mediated inflammation and cholesterol levels, contributing to the development of associated phenotypes like inflammatory bowel disease, asthma, and hypercholesterolemia.1[3], 11[4], 12[5], 13[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