glycosyl-n-stearoyl-sphingosine (d18:1/18:0) to sphingomyelin (d17:2/16:0, d18:2/15:0)*

Numerator Metabolite

Metabolite Accession: GCST90199846
Name: glycosyl-n-stearoyl-sphingosine (d18:1/18:0)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90200125
Name: sphingomyelin (d17:2/16:0, d18:2/15:0)*
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):
-0.153
Position:
8283819
SE (Ratio):
0.016
Effect Allele:
C
Z-score (Ratio):
-9.302
Reference Allele:
A
-log10(P):
-45.729
MAF:
0.462
Beta (Num):
-0.115
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.037
SE (Den):
0.014
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.3[1], 4[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.3[1], 5[2]

Ratio Explanation:

The ratio reflects the balance between a complex glycosphingolipid and sphingomyelin, both downstream of ceramide, whose synthesis is catalyzed by CERS4.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Altered CERS4 activity likely shifts the balance of complex sphingolipids, contributing to inflammatory responses.6[1], 7[2] Sphingolipid dysregulation is associated with gout, polyneuropathies, and elevated uric acid.8[3], 9[4], 10[5]

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