n-stearoyl-sphingosine (d18:1/18:0)* to sphingomyelin (d18:2/16:0, d18:1/16:1)*

Numerator Metabolite

Structure of n-stearoyl-sphingosine (d18:1/18:0)*
Metabolite Accession: GCST90200341
Name: n-stearoyl-sphingosine (d18:1/18:0)*
Hmdb Id: HMDB0004950
Super Pathway: NA
Sub Pathway: NA
Inchikey: VODZWWMEJITOND

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: rs364585

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:
20
Beta (Ratio):
0.190
Position:
12962718
SE (Ratio):
0.019
Effect Allele:
A
Z-score (Ratio):
9.971
Reference Allele:
G
-log10(P):
-52.250
MAF:
0.384
Beta (Num):
0.117
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.074
SE (Den):
0.015
No CNV overlap
rQTL cluster:
5
Reaction Distance:
NA
Closest Genes:
SPTLC3 ISM1 TASP1 ESF1 NDUFAF5

LLM Analysis

Numerator Metabolite Explanation:

Ceramide biosynthesis, Sphingolipid metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Sphingomyelin metabolism, Sphingolipid salvage.5[1], 6[2], 7[3]

Ratio Explanation:

Increased ratio of n-stearoyl-sphingosine to sphingomyelin suggests decreased conversion of ceramide to sphingomyelin, a key step in sphingolipid metabolism.5[1], 8[2], 9[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

ISM1, a secreted adipokine, is linked to cholelithiasis and altered liver enzymes.1[1], 2[2], 10[3] It inhibits hepatic lipid synthesis, which could influence the balance of sphingolipids like ceramide and sphingomyelin, both implicated in liver pathology and gallstone formation.3[4], 11[5], 12[6]

Phenotype Driver:

Gene-centric:ISM1

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