sphingomyelin (d18:2/18:1)* to sphingomyelin (d18:2/21:0, d16:2/23:0)*

Numerator Metabolite

Structure of sphingomyelin (d18:2/18:1)*
Metabolite Accession: GCST90200128
Name: sphingomyelin (d18:2/18:1)*
Hmdb Id: HMDB0001348
Super Pathway: NA
Sub Pathway: NA
Inchikey: LKQLRGMMMAHREN

Denominator Metabolite

Metabolite Accession: GCST90200129
Name: sphingomyelin (d18:2/21:0, d16:2/23:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs438568

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):
-0.120
Position:
12958687
SE (Ratio):
0.013
Effect Allele:
A
Z-score (Ratio):
-9.391
Reference Allele:
G
-log10(P):
-46.568
MAF:
0.384
Beta (Num):
-0.054
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.066
SE (Den):
0.013
No CNV overlap
rQTL cluster:
5
Reaction Distance:
NA
Closest Genes:
SPTLC3 ISM1 TASP1 ESF1 NDUFAF5

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.3[1], 4[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.3[1], 4[2]

Ratio Explanation:

The ratio reflects an altered balance between a common sphingomyelin (SM) species and very-long-chain SM species, suggesting dysregulated sphingolipid acyl-chain remodeling.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

ISM1 dysregulation may alter sphingomyelin profiles, contributing to cholelithiasis and affecting liver function (ALT) and LDL cholesterol.5[1], 6[2], 7[3] Altered sphingolipid metabolism is linked to cholesterol homeostasis, gallstone formation, and liver damage, providing a coherent biological narrative.8[4], 7[5], 9[6]

Phenotype Driver:

Metabolite-centric[sphingomyelin (d18:2/18:1)* to sphingomyelin (d18:2/21:0, d16:2/23:0)*]

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