hydroxypalmitoyl sphingomyelin (d18:1/16:0(oh))** to tricosanoyl sphingomyelin (d18:1/23:0)*

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

Structure of tricosanoyl sphingomyelin (d18:1/23:0)*
Metabolite Accession: GCST90200034
Name: tricosanoyl sphingomyelin (d18:1/23:0)*
Hmdb Id: HMDB0012105
Super Pathway: NA
Sub Pathway: NA
Inchikey: SXZWBNWTCVLZJN

Associated Genomic Regions

Region: rs174535

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):
0.325
Position:
61551356
SE (Ratio):
0.016
Effect Allele:
C
Z-score (Ratio):
20.254
Reference Allele:
T
-log10(P):
-208.349
MAF:
0.345
Beta (Num):
0.275
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.050
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis

Denominator Metabolite Explanation:

Sphingolipid biosynthesis

Ratio Explanation:

The ratio reflects altered fatty acid availability for ceramide synthesis, influenced by FADS1, comparing a hydroxylated sphingomyelin to a very-long-chain sphingomyelin.2[1], 3[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

FADS1 gene variants are linked to altered lipid profiles, including cholesterol and triglycerides, and increased risk for type 2 diabetes and cholelithiasis (gallstones).4[1], 1[2], 5[3], 6[4], 7[5] Altered FADS1 activity impacts sphingolipid composition, potentially contributing to these cardiometabolic phenotypes.

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