tricosanoyl sphingomyelin (d18:1/23:0)* to sphingomyelin (d18:1/17:0, d17:1/18:0, d19:1/16:0)

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

Metabolite Accession: GCST90200047
Name: sphingomyelin (d18:1/17:0, d17:1/18:0, d19:1/16:0)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs4814176

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):
-0.135
Position:
12959398
SE (Ratio):
0.014
Effect Allele:
T
Z-score (Ratio):
-9.636
Reference Allele:
C
-log10(P):
-48.928
MAF:
0.386
Beta (Num):
-0.048
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.087
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.2[1]

Denominator Metabolite Explanation:

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

Ratio Explanation:

This ratio reflects the balance between a very-long-chain (C23:0) and other long-chain sphingomyelins. Elevated levels suggest an alteration in fatty acid incorporation into sphingomyelins, potentially influenced by the metabolic regulatory functions of ISM1.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Elevated levels of the adipokine ISM1 are positively correlated with increased Alanine Aminotransferase (ALT), LDL-cholesterol, and cholelithiasis.4[1], 5[2], 6[3] Altered sphingomyelin profiles, particularly those with very-long-chain fatty acids, are linked to cholelithiasis, suggesting ISM1 may influence gallstone risk by modulating sphingolipid metabolism.7[4], 8[5], 9[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