stearoyl sphingomyelin (d18:1/18:0) to sphingomyelin (d18:2/16:0, d18:1/16:1)*

Numerator Metabolite

Structure of stearoyl sphingomyelin (d18:1/18:0)
Metabolite Accession: GCST90200335
Name: stearoyl sphingomyelin (d18:1/18:0)
Hmdb Id: HMDB0001348
Super Pathway: NA
Sub Pathway: NA
Inchikey: LKQLRGMMMAHREN

Denominator Metabolite

Metabolite Accession: GCST90199947
Name: sphingomyelin (d18:2/16:0, d18:1/16:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs1466448

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.285
Position:
8289519
SE (Ratio):
0.021
Effect Allele:
C
Z-score (Ratio):
-13.739
Reference Allele:
A
-log10(P):
-97.231
MAF:
0.191
Beta (Num):
-0.230
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
0.056
SE (Den):
0.018
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

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):
0.167
Position:
12973521
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
9.786
Reference Allele:
T
-log10(P):
-50.402
MAF:
0.386
Beta (Num):
0.092
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
-0.075
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, Sphingomyelin synthesis.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism, Sphingomyelin synthesis.4[1], 5[2], 6[3]

Ratio Explanation:

This ratio reflects CERS4 activity, indicating the balance of sphingomyelins with C18:0 acyl chains versus those with C16 acyl chains.1[1], 2[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetically-driven CERS4 expression alters sphingomyelin acyl-chain composition.2[1], 3[2] This shift likely impacts hepatic lipid metabolism, bile composition, and lipoprotein function, increasing risk for cholelithiasis, elevated ALT, and LDL-C by affecting cholesterol solubility and membrane properties.7[3], 8[4], 9[5], 10[6], 11[7]

Phenotype Driver:

Metabolite-centric[stearoyl sphingomyelin (d18:1/18:0) and sphingomyelin (d18:2/16:0, d18:1/16:1)]

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