sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)* to sphingomyelin (d18:1/20:0, d16:1/22:0)*

Numerator Metabolite

Metabolite Accession: GCST90200033
Name: sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator 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

Associated Genomic Regions

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):
0.237
Position:
8283819
SE (Ratio):
0.014
Effect Allele:
C
Z-score (Ratio):
16.795
Reference Allele:
A
-log10(P):
-144.080
MAF:
0.462
Beta (Num):
0.036
Novel Locus:
No
SE (Num):
0.014
Beta (Den):
-0.201
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 metabolism.6[1], 7[2], 8[3], 9[4], 10[5]

Denominator Metabolite Explanation:

Sphingolipid metabolism.6[1], 11[2], 7[3], 8[4], 12[5], 10[6]

Ratio Explanation:

The ratio reflects CERS4 activity; it compares sphingomyelins with very-long-chain fatty acids (numerator) to those with long-chain fatty acids (denominator), which are influenced by CERS4's substrate preference.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CERS4-eQTL colocalization suggests a genetic influence on its expression. Altered CERS4 activity likely changes the balance of sphingomyelin species, and dysregulated sphingolipid metabolism is linked to both polyneuropathies and gout, potentially through inflammatory mechanisms.13[1], 14[2], 15[3], 16[4], 17[5], 18[6], 19[7]

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