sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)* to 1-palmitoyl-2-oleoyl-gpi (16:0/18:1)*

Numerator Metabolite

Metabolite Accession: GCST90200033
Name: sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of 1-palmitoyl-2-oleoyl-gpi (16:0/18:1)*
Metabolite Accession: GCST90200080
Name: 1-palmitoyl-2-oleoyl-gpi (16:0/18:1)*
Hmdb Id: HMDB0009783
Super Pathway: NA
Sub Pathway: NA
Inchikey: PDLAMJKMOKWLAJ

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):
-0.179
Position:
61557803
SE (Ratio):
0.019
Effect Allele:
C
Z-score (Ratio):
-9.337
Reference Allele:
T
-log10(P):
-46.059
MAF:
0.346
Beta (Num):
-0.078
Novel Locus:
Yes ✔️
SE (Num):
0.014
Beta (Den):
0.102
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.4[1], 5[2]

Denominator Metabolite Explanation:

GPI anchor biosynthesis.6[1], 7[2]

Ratio Explanation:

The ratio reflects FADS1/FADS2 desaturase efficiency, balancing the incorporation of specific unsaturated fatty acids into distinct complex lipid classes: sphingomyelins and GPIs.8[1], 3[2], 9[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1 variants alter polyunsaturated fatty acid synthesis, affecting the ratio.10[1], 11[2] This dysregulates lipid metabolism and inflammatory pathways, contributing to phenotypes like hypercholesterolemia, cholelithiasis, and asthma, which are observed in the associated traits.12[3], 11[4], 13[5], 14[6], 15[7]

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