palmitoyl sphingomyelin (d18:1/16:0) to sphingomyelin (d18:1/19:0, d19:1/18:0)*

Numerator Metabolite

Structure of palmitoyl sphingomyelin (d18:1/16:0)
Metabolite Accession: GCST90199876
Name: palmitoyl sphingomyelin (d18:1/16:0)
Hmdb Id: HMDB0010169
Super Pathway: NA
Sub Pathway: NA
Inchikey: RWKUXQNLWDTSLO

Denominator Metabolite

Metabolite Accession: GCST90200131
Name: sphingomyelin (d18:1/19:0, d19:1/18:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

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):
0.249
Position:
8289519
SE (Ratio):
0.020
Effect Allele:
C
Z-score (Ratio):
12.414
Reference Allele:
A
-log10(P):
-79.805
MAF:
0.191
Beta (Num):
0.058
Novel Locus:
No
SE (Num):
0.019
Beta (Den):
-0.191
SE (Den):
0.018
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.3[1]

Denominator Metabolite Explanation:

Sphingolipid metabolism.3[1]

Ratio Explanation:

The ratio reflects the relative abundance of two sphingomyelin species, which is influenced by the activity of ceramide synthases like CERS4 that produce their precursors.4[1], 5[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Given the absence of a phenotype, the role of CERS4 in ceramide synthesis, a key step in sphingolipid metabolism, is the primary link.1[1], 3[2] Altered CERS4 activity could shift the balance of sphingomyelin species, but a direct link to a phenotype is not established.

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