sphingomyelin (d18:2/14:0, d18:1/14:1)* to 1-palmitoyl-2-oleoyl-gpi (16:0/18:1)*

Numerator Metabolite

Metabolite Accession: GCST90199975
Name: sphingomyelin (d18:2/14:0, d18:1/14:1)*
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):
-0.192
Position:
61557803
SE (Ratio):
0.017
Effect Allele:
C
Z-score (Ratio):
-11.566
Reference Allele:
T
-log10(P):
-69.572
MAF:
0.347
Beta (Num):
-0.090
Novel Locus:
No
SE (Num):
0.013
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, Ceramide synthesis4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

GPI anchor biosynthesis, Phospholipid metabolism7[1], 8[2], 9[3]

Ratio Explanation:

The ratio may reflect a shift in membrane composition or signaling, potentially influenced by FADS1's role in providing fatty acid precursors for both pathways.10[1]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered FADS1 activity likely modifies fatty acid availability for sphingomyelin synthesis and GPI-anchor remodeling, affecting membrane fluidity and signaling, which is linked to cholesterol metabolism, inflammation, and consequently phenotypes like cholelithiasis and hypercholesterolemia.11[1], 12[2], 13[3], 14[4], 15[5]

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