sphingomyelin (d18:2/23:1)* to sphingomyelin (d18:2/18:1)*

Numerator Metabolite

Structure of sphingomyelin (d18:2/23:1)*
Metabolite Accession: GCST90200126
Name: sphingomyelin (d18:2/23:1)*
Hmdb Id: HMDB0240668
Super Pathway: NA
Sub Pathway: NA
Inchikey: PUTLJICFLAOKRD

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: rs686548

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):
0.116
Position:
12973521
SE (Ratio):
0.014
Effect Allele:
A
Z-score (Ratio):
8.470
Reference Allele:
T
-log10(P):
-38.247
MAF:
0.387
Beta (Num):
0.061
Novel Locus:
Yes ✔️
SE (Num):
0.014
Beta (Den):
-0.055
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/synthesis.4[1], 5[2]

Denominator Metabolite Explanation:

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

Ratio Explanation:

This ratio reflects altered sphingomyelin composition, specifically the balance between very-long-chain (C23:1) and long-chain (C18:1) fatty acids, potentially influenced by ISM1's role in lipid metabolism.2[1], 6[2]

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

ISM1-pQTL colocalization suggests that ISM1 influences sphingolipid metabolism. Altered sphingomyelin profiles have a causal relationship with cholelithiasis, a phenotype associated with ISM1 and characterized by abnormal lipid metabolism.7[1], 8[2], 9[3], 10[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