sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)* to 1-palmitoyl-2-arachidonoyl-gpi (16:0/20:4)*

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-palmitoyl-2-arachidonoyl-gpi (16:0/20:4)*
Metabolite Accession: GCST90200062
Name: 1-palmitoyl-2-arachidonoyl-gpi (16:0/20:4)*
Hmdb Id: HMDB0009789
Super Pathway: NA
Sub Pathway: NA
Inchikey: KIQYUSYSJTUGFZ

Associated Genomic Regions

Region: rs174546

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):
0.336
Position:
61569830
SE (Ratio):
0.024
Effect Allele:
T
Z-score (Ratio):
14.172
Reference Allele:
C
-log10(P):
-103.306
MAF:
0.339
Beta (Num):
0.186
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.149
SE (Den):
0.016
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
FADS2 FADS1 FEN1 TMEM258 MYRF

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis

Denominator Metabolite Explanation:

Glycosylphosphatidylinositol (GPI)-anchor biosynthesis

Ratio Explanation:

This ratio may reflect the balance between sphingolipid synthesis and the production of specific GPI-anchored proteins, potentially influenced by the availability of arachidonic acid.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

The FADS1/FADS2 gene cluster influences the synthesis of arachidonic acid, a key component of the denominator metabolite and a precursor for inflammatory mediators. Altered FADS activity, as suggested by the eQTL, could impact inflammatory pathways, potentially contributing to the development of associated inflammatory conditions like IBD, asthma, and cardiovascular diseases.8[1], 9[2], 10[3], 11[4], 12[5], 13[6], 14[7], 15[8], 16[9], 17[10], 18[11], 19[12], 20[13], 21[14], 22[15]

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