hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to sphingomyelin (d18:2/16:0, d18:1/16:1)*

Numerator Metabolite

Metabolite Accession: GCST90200243
Name: hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))**
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90199947
Name: sphingomyelin (d18:2/16:0, d18:1/16:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs174544

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
11
Beta (Ratio):
0.341
Position:
61567753
SE (Ratio):
0.015
Effect Allele:
A
Z-score (Ratio):
22.374
Reference Allele:
C
-log10(P):
-253.643
MAF:
0.302
Beta (Num):
0.275
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.066
SE (Den):
0.015
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:

Sphingolipid biosynthesis

Ratio Explanation:

The ratio reflects the conversion of a hydroxylated sphingomyelin to a desaturated form, potentially influenced by FADS1 activity on fatty acid precursors incorporated into sphingolipids.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1 gene variants influence the composition of fatty acids incorporated into lipids like sphingomyelins. This alteration in lipid metabolism is linked to an increased risk for inflammatory conditions such as phlebitis, thrombophlebitis, and asthma, and also affects cholesterol levels.8[1], 9[2], 6[3], 10[4], 5[5], 7[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