sphingomyelin (d18:2/24:1, d18:1/24:2)* to myristoyl dihydrosphingomyelin (d18:0/14:0)*

Numerator Metabolite

Metabolite Accession: GCST90200040
Name: sphingomyelin (d18:2/24:1, d18:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of myristoyl dihydrosphingomyelin (d18:0/14:0)*
Metabolite Accession: GCST90200049
Name: myristoyl dihydrosphingomyelin (d18:0/14:0)*
Hmdb Id: HMDB0012085
Super Pathway: NA
Sub Pathway: NA
Inchikey: MJAFYELZQYPMQG

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):
-0.250
Position:
12962718
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
-14.315
Reference Allele:
G
-log10(P):
-105.351
MAF:
0.384
Beta (Num):
-0.068
Novel Locus:
No
SE (Num):
0.014
Beta (Den):
0.182
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.6[1], 7[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.8[1], 9[2]

Ratio Explanation:

This ratio reflects the balance within the sphingolipid pathway, comparing a complex sphingomyelin to a dihydrosphingomyelin, a precursor in ceramide synthesis.6[1], 10[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Altered ISM1 function likely affects sphingolipid metabolism, influencing the availability of specific species.1[1], 2[2] This dysregulation, reflected in the ratio, is associated with cholelithiasis, possibly through its connection with LDL-cholesterol and liver function markers like ALT, as sphingolipids play a role in gallstone formation.11[3], 12[4], 3[5], 4[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