tricosanoyl sphingomyelin (d18:1/23:0)* to n-palmitoyl-heptadecasphingosine (d17:1/16:0)*

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: GCST90200115
Name: n-palmitoyl-heptadecasphingosine (d17:1/16:0)*
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

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SNP Summary

Chr:
20
Beta (Ratio):
-0.149
Position:
12962718
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
-8.874
Reference Allele:
G
-log10(P):
-41.797
MAF:
0.384
Beta (Num):
-0.048
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.101
SE (Den):
0.017
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]

Denominator Metabolite Explanation:

Sphingolipid metabolism.5[1]

Ratio Explanation:

The ratio reflects the balance in sphingolipid metabolism. ISM1's role in suppressing hepatic lipid synthesis may influence the relative abundance of different sphingomyelin species.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

ISM1's function as a regulator of lipid metabolism and inflammation likely influences sphingomyelin profiles, which are associated with cholelithiasis and altered liver enzymes (ALT) and LDL cholesterol.1[1], 2[2], 3[3], 6[4], 7[5]

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