tricosanoyl sphingomyelin (d18:1/23:0)* to sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0)*

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 sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0)*
Metabolite Accession: GCST90200017
Name: sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: LQINJRUGTUOHGS

Associated Genomic Regions

Region: rs4814175

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):
-0.132
Position:
12959094
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
-9.736
Reference Allele:
T
-log10(P):
-49.909
MAF:
0.386
Beta (Num):
-0.048
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.084
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.5[1], 6[2], 7[3], 8[4]

Denominator Metabolite Explanation:

Sphingolipid metabolism.9[1], 5[2], 6[3], 7[4]

Ratio Explanation:

The ratio reflects the relative abundance of a very-long-chain sphingomyelin to shorter-chain sphingomyelins, potentially indicating altered sphingolipid chain length preference in synthesis or degradation.8[1], 10[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Elevated tricosanoyl sphingomyelin (d18:1/23:0) relative to other sphingomyelins may be associated with cholelithiasis, potentially through ISM1's influence on lipid metabolism and inflammation, though a direct causal link is not established.11[1], 2[2], 12[3], 13[4]

Phenotype Driver:

Metabolite-centric[tricosanoyl sphingomyelin (d18:1/23:0)* and sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0)*]

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