sphingomyelin (d18:1/20:0, d16:1/22:0)* to sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0)*

Numerator Metabolite

Structure of sphingomyelin (d18:1/20:0, d16:1/22:0)*
Metabolite Accession: GCST90200001
Name: sphingomyelin (d18:1/20:0, d16:1/22:0)*
Hmdb Id: HMDB0012102
Super Pathway: NA
Sub Pathway: NA
Inchikey: AADLTHQNYQJHQV

Denominator Metabolite

Structure of sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0)*
Metabolite Accession: GCST90200134
Name: sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: JONXXLXMISNQNG

Associated Genomic Regions

Region: rs8012828

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Clumped rQTL variant

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SNP Summary

Chr:
14
Beta (Ratio):
0.355
Position:
64233980
SE (Ratio):
0.019
Effect Allele:
T
Z-score (Ratio):
18.891
Reference Allele:
C
-log10(P):
-181.611
MAF:
0.165
Beta (Num):
0.298
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.057
SE (Den):
0.021
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

Region: rs1871194

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:
19
Beta (Ratio):
-0.238
Position:
8283819
SE (Ratio):
0.015
Effect Allele:
C
Z-score (Ratio):
-16.048
Reference Allele:
A
-log10(P):
-131.768
MAF:
0.462
Beta (Num):
-0.201
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.037
SE (Den):
0.016
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

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

Ratio Explanation:

The ratio reflects CERS4 activity, comparing its preferred products (sphingomyelins with C20:0, C22:0 chains) to very-long-chain sphingomyelins, likely synthesized by other ceramide synthases.6[1], 7[2], 8[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered CERS4 activity shifts the sphingomyelin acyl-chain profile, which can impact membrane properties and cell signaling, potentially contributing to metabolic dysregulation seen in lipid disorders, gout, and neuropathies, which have been associated with sphingolipid metabolism changes.9[1], 10[2], 11[3], 12[4], 13[5]

Phenotype Driver:

Gene-centric:CERS4

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