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

Numerator Metabolite

Structure of sphingomyelin (d18:1/20:0, d16:1/22:0)*
Metabolite Accession: GCST90200001
Name: sphingomyelin (d18:1/20:0, d16:1/22:0)*
Hmdb Id: HMDB0012102
Super Pathway: NA
Sub Pathway: NA
Inchikey: AADLTHQNYQJHQV

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):
-0.235
Position:
8283819
SE (Ratio):
0.015
Effect Allele:
C
Z-score (Ratio):
-15.971
Reference Allele:
A
-log10(P):
-130.544
MAF:
0.462
Beta (Num):
-0.201
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 metabolism.2[1], 3[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.2[1], 3[2]

Ratio Explanation:

The ratio reflects CERS4 activity, which preferentially synthesizes ceramides with longer acyl chains (C20:0, C22:0) over shorter chains (C14:0, C15:0).1[1], 4[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CERS4 influences the balance of sphingolipid species.5[1] Altered sphingolipid profiles are linked to inflammation and metabolic disorders like gout, which involves uric acid accumulation and inflammatory responses.6[2], 7[3], 8[4] The association with polyneuropathies may stem from the role of sphingolipids in nerve cell membranes.4[5], 9[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