sphingomyelin (d18:2/16:0, d18:1/16:1)* to sphingomyelin (d18:0/18:0, d19:0/17:0)*

Numerator Metabolite

Metabolite Accession: GCST90199947
Name: sphingomyelin (d18:2/16:0, d18:1/16:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of sphingomyelin (d18:0/18:0, d19:0/17:0)*
Metabolite Accession: GCST90200056
Name: sphingomyelin (d18:0/18:0, d19:0/17:0)*
Hmdb Id: HMDB0012087
Super Pathway: NA
Sub Pathway: NA
Inchikey: JCELSEVNSMXGKA

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):
-0.204
Position:
12962718
SE (Ratio):
0.019
Effect Allele:
A
Z-score (Ratio):
-10.586
Reference Allele:
G
-log10(P):
-58.624
MAF:
0.384
Beta (Num):
-0.074
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.130
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 biosynthesis/metabolism

Denominator Metabolite Explanation:

Sphingolipid biosynthesis/metabolism

Ratio Explanation:

The ratio compares unsaturated to saturated sphingomyelin species, potentially reflecting ceramide desaturation activity or the balance of different pools of sphingolipids within metabolic pathways.6[1]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Elevated ALT, LDL-C, and cholelithiasis are linked to altered lipid and sphingolipid metabolism.7[1], 8[2], 9[3], 10[4], 11[5] ISM1's role in suppressing hepatic lipid synthesis suggests its dysregulation could alter bile composition and liver function, contributing to gallstone formation and associated liver enzyme elevation.7[6], 4[7]

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