palmitoyl sphingomyelin (d18:1/16:0) to glycosyl-n-stearoyl-sphingosine (d18:1/18:0)

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: GCST90199846
Name: glycosyl-n-stearoyl-sphingosine (d18:1/18:0)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs1871194

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
19
Beta (Ratio):
0.151
Position:
8283819
SE (Ratio):
0.016
Effect Allele:
C
Z-score (Ratio):
9.639
Reference Allele:
A
-log10(P):
-48.962
MAF:
0.462
Beta (Num):
0.036
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.115
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 metabolism3[1], 4[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism5[1], 6[2]

Ratio Explanation:

This ratio may reflect the balance between sphingomyelin and its precursor ceramide, potentially modulated by CERS4 activity, although a direct relationship is not established.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

CERS4 eQTL suggests a genetic influence on sphingolipid metabolism.1[1], 2[2] Altered sphingolipid profiles are linked to both gout and polyneuropathies.7[3], 8[4], 9[5] Dysregulation of CERS4 could disrupt sphingolipid homeostasis, contributing to the risk of these conditions, potentially through inflammatory or metabolic mechanisms.10[6], 11[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