sphingomyelin (d18:2/14:0, d18:1/14:1)* to glycosyl-n-stearoyl-sphingosine (d18:1/18:0)

Numerator Metabolite

Metabolite Accession: GCST90199975
Name: sphingomyelin (d18:2/14:0, d18:1/14:1)*
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):
0.150
Position:
8283819
SE (Ratio):
0.016
Effect Allele:
C
Z-score (Ratio):
9.470
Reference Allele:
A
-log10(P):
-47.329
MAF:
0.461
Beta (Num):
0.034
Novel Locus:
No
SE (Num):
0.013
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], 5[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.6[1], 7[2], 8[3]

Ratio Explanation:

An increased ratio may indicate a shift from glycosylated ceramides towards sphingomyelin synthesis, both of which are downstream pathways from ceramide.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered CERS4 activity likely modifies the balance of sphingolipid species, including sphingomyelin and glucosylceramides.1[1], 9[2] This dysregulation of sphingolipid metabolism has been linked to both polyneuropathy and elevated uric acid levels, potentially through inflammatory mechanisms or direct effects on neuronal and renal function.10[3], 11[4], 12[5], 13[6], 14[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