lignoceroyl sphingomyelin (d18:1/24:0) to behenoyl dihydrosphingomyelin (d18:0/22:0)*

Numerator Metabolite

Structure of lignoceroyl sphingomyelin (d18:1/24:0)
Metabolite Accession: GCST90200020
Name: lignoceroyl sphingomyelin (d18:1/24:0)
Hmdb Id: HMDB0011697
Super Pathway: NA
Sub Pathway: NA
Inchikey: QEDPUVGSSDPBMD

Denominator Metabolite

Structure of behenoyl dihydrosphingomyelin (d18:0/22:0)*
Metabolite Accession: GCST90200059
Name: behenoyl dihydrosphingomyelin (d18:0/22:0)*
Hmdb Id: HMDB0012091
Super Pathway: NA
Sub Pathway: NA
Inchikey: FONAXCRWZQFJHY

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):
-0.170
Position:
12962718
SE (Ratio):
0.015
Effect Allele:
A
Z-score (Ratio):
-11.533
Reference Allele:
G
-log10(P):
-69.183
MAF:
0.384
Beta (Num):
-0.093
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.077
SE (Den):
0.016
No CNV overlap
rQTL cluster:
5
Reaction Distance:
NA
Closest Genes:
SPTLC3 ISM1 TASP1 ESF1 NDUFAF5

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

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

Ratio Explanation:

This ratio reflects the activity of DEGS1, comparing a sphingomyelin (product backbone) to a dihydrosphingomyelin (precursor backbone), indicating the rate of ceramide synthesis.2[1], 8[2], 9[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered DEGS1 activity likely changes sphingolipid profiles, impacting cholesterol homeostasis and liver function, which is associated with an increased risk of cholelithiasis and elevated LDL cholesterol.10[1], 11[2], 12[3], 13[4]

Phenotype Driver:

Gene-centric:DEGS1

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