sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0)* to glycosyl ceramide (d18:1/20:0, d16:1/22:0)*

Numerator Metabolite

Structure of sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0)*
Metabolite Accession: GCST90200017
Name: sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: LQINJRUGTUOHGS

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):
0.215
Position:
8283819
SE (Ratio):
0.015
Effect Allele:
C
Z-score (Ratio):
14.009
Reference Allele:
A
-log10(P):
-100.999
MAF:
0.462
Beta (Num):
0.031
Novel Locus:
No
SE (Num):
0.016
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 de novo synthesis, Sphingomyelin cycle.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Sphingolipid de novo synthesis, Glycosphingolipid metabolism.8[1], 9[2], 7[3], 10[4]

Ratio Explanation:

The ratio reflects the balance between two downstream pathways of ceramide metabolism, where CERS4 is a key enzyme in producing the ceramide precursor.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CERS4 influences the availability of specific ceramides, precursors for both sphingomyelin and glycosyl-ceramide.1[1], 2[2] Altered levels of these lipids, particularly sphingomyelin, have been associated with both polyneuropathies and gout, suggesting a disruption in sphingolipid metabolism as a common link.11[3], 12[4], 13[5], 14[6], 15[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