tricosanoyl sphingomyelin (d18:1/23:0)* to behenoyl dihydrosphingomyelin (d18:0/22:0)*

Numerator 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

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: rs680379

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:
20
Beta (Ratio):
-0.126
Position:
12969400
SE (Ratio):
0.016
Effect Allele:
A
Z-score (Ratio):
-8.119
Reference Allele:
G
-log10(P):
-35.294
MAF:
0.384
Beta (Num):
-0.049
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.077
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:

Sphingolipid metabolism.3[1], 4[2]

Denominator Metabolite Explanation:

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

Ratio Explanation:

The ratio reflects DEGS1 enzyme activity, comparing its product (tricosanoyl sphingomyelin) with a related precursor (behenoyl dihydrosphingomyelin), indicating efficiency of ceramide desaturation.2[1], 7[2]

Ratio Evidence:

canonical reaction catalyzed by the enzyme

Gene Ratio Phenotype Relationship:

Genetic variants altering DEGS1 function disrupt sphingolipid balance, impacting liver function (ALT levels) and bile composition.8[1], 9[2], 10[3] This dysregulation is a proposed mechanism for increased cholelithiasis risk, as sphingolipids are integral to liver homeostasis.11[4], 12[5]

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