sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)* to glycosyl ceramide (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

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

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):
0.220
Position:
8283819
SE (Ratio):
0.015
Effect Allele:
C
Z-score (Ratio):
14.480
Reference Allele:
A
-log10(P):
-107.733
MAF:
0.462
Beta (Num):
0.036
Novel Locus:
No
SE (Num):
0.014
Beta (Den):
-0.184
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 biosynthesis, ceramide synthesis.3[1], 4[2]

Denominator Metabolite Explanation:

Sphingolipid biosynthesis, glycosphingolipid metabolism.5[1], 6[2]

Ratio Explanation:

The ratio reflects the conversion of ceramide, the product of CERS4 activity, into either sphingomyelin or glycosylceramide, indicating a branch point in sphingolipid metabolism.3[1], 5[2], 7[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered CERS4 activity likely shifts the balance of sphingolipid synthesis, affecting the ratio of sphingomyelin to glycosylceramide. This dysregulation of sphingolipid metabolism has been linked to polyneuropathies and gout, potentially through altered cell signaling or inflammatory responses.8[1], 9[2], 10[3]

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