lignoceroyl sphingomyelin (d18:1/24:0) to sphingomyelin (d18:0/18:0, d19:0/17:0)*

Numerator Metabolite

Structure of lignoceroyl sphingomyelin (d18:1/24:0)
Metabolite Accession: GCST90200020
Name: lignoceroyl sphingomyelin (d18:1/24:0)
Hmdb Id: HMDB0011697
Super Pathway: NA
Sub Pathway: NA
Inchikey: QEDPUVGSSDPBMD

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: 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):
-0.223
Position:
12969400
SE (Ratio):
0.019
Effect Allele:
A
Z-score (Ratio):
-11.984
Reference Allele:
G
-log10(P):
-74.523
MAF:
0.385
Beta (Num):
-0.093
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.131
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 metabolism.2[1]

Denominator Metabolite Explanation:

Sphingolipid metabolism.2[1]

Ratio Explanation:

An elevated ratio may indicate a shift in sphingolipid composition, potentially due to altered synthesis or catabolism influenced by ISM1's role in lipid metabolism.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

ISM1, an adipokine influencing lipid metabolism, may alter sphingomyelin composition.1[1] This altered lipid profile could contribute to the development of cholelithiasis, a condition linked to disturbances in sphingolipid and cholesterol metabolism, and elevated ALT, a marker of liver stress.3[2], 4[3], 5[4]

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