myristoyl dihydrosphingomyelin (d18:0/14:0)* to glycosyl ceramide (d18:1/20:0, d16:1/22:0)*

Numerator Metabolite

Structure of myristoyl dihydrosphingomyelin (d18:0/14:0)*
Metabolite Accession: GCST90200049
Name: myristoyl dihydrosphingomyelin (d18:0/14:0)*
Hmdb Id: HMDB0012085
Super Pathway: NA
Sub Pathway: NA
Inchikey: MJAFYELZQYPMQG

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):
0.017
Effect Allele:
C
Z-score (Ratio):
13.222
Reference Allele:
A
-log10(P):
-90.218
MAF:
0.462
Beta (Num):
0.036
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 Synthesis4[1]

Denominator Metabolite Explanation:

Sphingolipid Metabolism5[1], 6[2]

Ratio Explanation:

This ratio may reflect CERS4 activity, where increased function leads to higher levels of its products (dihydrosphingomyelin) relative to other downstream sphingolipids (glycosyl ceramides).

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CERS4 activity influences sphingolipid composition. Altered sphingolipid profiles, including ceramides, are associated with inflammation, which is a key factor in both gout and polyneuropathies, potentially through modulation of immune responses and neuronal membrane integrity.7[1], 8[2], 9[3], 10[4], 11[5], 12[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