sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0)* to sphingomyelin (d18:2/18:1)*

Numerator Metabolite

Metabolite Accession: GCST90200053
Name: sphingomyelin (d18:1/21:0, d17:1/22:0, d16:1/23:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator 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

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):
0.211
Position:
12958687
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
12.166
Reference Allele:
G
-log10(P):
-76.733
MAF:
0.385
Beta (Num):
0.157
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.054
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.4[1], 5[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2]

Ratio Explanation:

This ratio compares different sphingomyelin species, potentially reflecting altered sphingolipid synthesis or metabolism influenced by the secreted protein ISM1, which modulates lipid metabolism.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

ISM1, a secreted adipokine, appears to modulate hepatic lipid synthesis, influencing sphingomyelin profiles and LDL-cholesterol levels.2[1], 6[2], 3[3] This modulation is linked to cholelithiasis risk, a process where sphingomyelin and LDL have been shown to play a causal, protective role.7[4], 8[5], 9[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