glycosyl-n-stearoyl-sphingosine (d18:1/18:0) to glycosyl ceramide (d18:2/24:1, d18:1/24:2)*

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: GCST90200118
Name: glycosyl ceramide (d18:2/24:1, d18:1/24:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs1871194

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.157
Position:
8283819
SE (Ratio):
0.013
Effect Allele:
C
Z-score (Ratio):
-11.704
Reference Allele:
A
-log10(P):
-71.183
MAF:
0.462
Beta (Num):
-0.115
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.041
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.3[1]

Denominator Metabolite Explanation:

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

Ratio Explanation:

An elevated ratio of glycosyl-n-stearoyl-sphingosine to glycosyl ceramide may indicate decreased activity of CERS4, which is involved in ceramide synthesis.1[1], 2[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered CERS4 function likely dysregulates sphingolipid metabolism, a process linked to both polyneuropathy and gout.5[1], 6[2], 7[3], 8[4] Changes in sphingolipid levels can contribute to nerve damage and inflammatory responses seen in these conditions.6[5], 9[6], 10[7]

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