glycosyl-n-stearoyl-sphingosine (d18:1/18:0) to lactosyl-n-nervonoyl-sphingosine (d18:1/24:1)*

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

Structure of lactosyl-n-nervonoyl-sphingosine (d18:1/24:1)*
Metabolite Accession: GCST90200098
Name: lactosyl-n-nervonoyl-sphingosine (d18:1/24:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: MKOKWBRPIBQYJJ

Associated Genomic Regions

Region: rs1871194

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.169
Position:
8283819
SE (Ratio):
0.017
Effect Allele:
C
Z-score (Ratio):
-9.651
Reference Allele:
A
-log10(P):
-49.075
MAF:
0.462
Beta (Num):
-0.115
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.053
SE (Den):
0.016
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

Region: rs1045989

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:
9
Beta (Ratio):
-0.146
Position:
114696488
SE (Ratio):
0.017
Effect Allele:
A
Z-score (Ratio):
-8.601
Reference Allele:
C
-log10(P):
-39.381
MAF:
0.417
Beta (Num):
-0.085
Novel Locus:
Yes ✔️
SE (Num):
0.015
Beta (Den):
0.061
SE (Den):
0.016
No CNV overlap
rQTL cluster:
80
Reaction Distance:
NA
Closest Genes:
UGCG SUSD1 C9orf84 GNG10 DNAJC25-GNG10

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism, Glycosphingolipid biosynthesis.3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism, Glycosphingolipid biosynthesis.6[1], 7[2]

Ratio Explanation:

The ratio reflects CERS4 activity, where higher gene expression increases the C18:0 numerator relative to the downstream, alternatively-acylated (C24:1) denominator.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered CERS4 expression dysregulates sphingolipid metabolism, a process linked to inflammation and nerve function.8[1], 9[2], 10[3] This metabolic shift, reflected by the ratio, likely contributes to inflammatory conditions like gout and may induce polyneuropathies, aligning with the observed high uric acid and monocyte counts.11[4], 12[5]

Phenotype Driver:

Metabolite-centric[glycosyl-n-stearoyl-sphingosine, lactosyl-n-nervonoyl-sphingosine]

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