glycosyl-n-stearoyl-sphingosine (d18:1/18:0) to sphingomyelin (d17:1/14:0, d16:1/15:0)*

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: 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

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.150
Position:
8283819
SE (Ratio):
0.016
Effect Allele:
C
Z-score (Ratio):
-9.219
Reference Allele:
A
-log10(P):
-44.955
MAF:
0.462
Beta (Num):
-0.115
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.3[1], 4[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.3[1]

Ratio Explanation:

The ratio likely reflects CERS4 activity, indicating the channeling of C18-ceramides toward glycosphingolipid production over sphingomyelin synthesis.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered CERS4 activity likely perturbs sphingolipid metabolism, as indicated by the ratio, and dysregulation of sphingolipids is a known factor in the development of polyneuropathies.5[1], 6[2], 7[3] The connection to gout and uric acid may suggest a wider metabolic imbalance linked to changes in complex lipids.8[4], 9[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