glycosyl ceramide (d18:1/20:0, d16:1/22:0)* to sphingomyelin (d17:1/14:0, d16:1/15:0)*

Numerator Metabolite

Metabolite Accession: GCST90200145
Name: glycosyl ceramide (d18:1/20:0, d16:1/22:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200169
Name: sphingomyelin (d17:1/14:0, d16:1/15:0)*
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

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SNP Summary

Chr:
19
Beta (Ratio):
-0.218
Position:
8283819
SE (Ratio):
0.015
Effect Allele:
C
Z-score (Ratio):
-14.277
Reference Allele:
A
-log10(P):
-104.802
MAF:
0.462
Beta (Num):
-0.184
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.035
SE (Den):
0.015
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], 6[3]

Denominator Metabolite Explanation:

Sphingolipid biosynthesis.7[1], 8[2], 6[3]

Ratio Explanation:

The ratio reflects the metabolic fate of ceramides, synthesized by CERS4, into either glycosyl ceramides or sphingomyelins, two major classes of sphingolipids.9[1]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered CERS4 activity likely shifts the balance of sphingolipid species, including the glycosyl ceramide to sphingomyelin ratio. Dysregulation of sphingolipid metabolism is implicated in both polyneuropathy and inflammatory conditions like gout, potentially linking the genetic factor to the observed phenotypes.10[1], 11[2], 12[3], 13[4], 14[5], 15[6]

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