sphingomyelin (d18:1/20:1, d18:2/20:0)* to sphingomyelin (d18:2/23:1)*

Numerator Metabolite

Metabolite Accession: GCST90199996
Name: sphingomyelin (d18:1/20:1, d18:2/20:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator 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

Associated Genomic Regions

Region: rs1466448

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):
-0.322
Position:
8289519
SE (Ratio):
0.017
Effect Allele:
C
Z-score (Ratio):
-18.878
Reference Allele:
A
-log10(P):
-181.353
MAF:
0.191
Beta (Num):
-0.264
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
0.058
SE (Den):
0.017
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism

Denominator Metabolite Explanation:

Sphingolipid metabolism

Ratio Explanation:

This ratio compares sphingomyelins with C20 fatty acids, whose precursors are synthesized by CERS4, to those with C23:1 fatty acids, likely reflecting differential ceramide synthase activities.3[1], 1[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

No phenotype was provided; therefore, a link between the CERS4 gene, the sphingomyelin ratio, and a clinical outcome cannot be established.

Phenotype Driver:

none

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