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

Numerator Metabolite

Metabolite Accession: GCST90199975
Name: sphingomyelin (d18:2/14:0, d18:1/14:1)*
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):
-0.195
Position:
12962718
SE (Ratio):
0.012
Effect Allele:
A
Z-score (Ratio):
-15.619
Reference Allele:
G
-log10(P):
-124.950
MAF:
0.385
Beta (Num):
-0.013
Novel Locus:
No
SE (Num):
0.013
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], 8[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism.9[1], 7[2], 10[3]

Ratio Explanation:

The ratio represents the conversion of myristoyl dihydrosphingomyelin to sphingomyelin, a key step in sphingolipid biosynthesis, which appears to be influenced by ISM1.6[1], 11[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

ISM1's regulation of lipid metabolism may influence sphingolipid pathways.12[1], 5[2] Altered levels of these sphingolipids are associated with cholelithiasis and shifts in LDL-cholesterol and ALT levels, suggesting a gene-to-phenotype link.13[3], 14[4], 15[5], 16[6], 17[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