glycosyl-n-palmitoyl-sphingosine (d18:1/16:0) to glycosyl-n-stearoyl-sphingosine (d18:1/18:0)

Numerator Metabolite

Metabolite Accession: GCST90200085
Name: glycosyl-n-palmitoyl-sphingosine (d18:1/16:0)
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Metabolite Accession: GCST90199846
Name: glycosyl-n-stearoyl-sphingosine (d18:1/18:0)
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):
0.149
Position:
8283819
SE (Ratio):
0.015
Effect Allele:
C
Z-score (Ratio):
10.179
Reference Allele:
A
-log10(P):
-54.360
MAF:
0.461
Beta (Num):
0.034
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.115
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 metabolism.4[1]

Denominator Metabolite Explanation:

Sphingolipid metabolism.4[1]

Ratio Explanation:

This ratio reflects the relative activity of ceramide synthases, where CERS4 contributes to the formation of the denominator, glycosyl-n-stearoyl-sphingosine.1[1], 5[2], 6[3]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CERS4's role in ceramide synthesis may influence inflammation. Altered ceramide profiles are linked to gout and hyperuricemia, suggesting a potential mechanism where genetic variation in CERS4 affects ceramide levels, contributing to the development of gout and related polyneuropathies.7[1], 8[2], 9[3], 10[4]

Phenotype Driver:

Metabolite-centric[both]

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