sphingomyelin (d18:1/14:0, d16:1/16:0)* to glycosyl-n-stearoyl-sphingosine (d18:1/18:0)

Numerator Metabolite

Structure of sphingomyelin (d18:1/14:0, d16:1/16:0)*
Metabolite Accession: GCST90199945
Name: sphingomyelin (d18:1/14:0, d16:1/16:0)*
Hmdb Id: HMDB0012097
Super Pathway: NA
Sub Pathway: NA
Inchikey: KYICBZWZQPCUMO

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):
0.157
Position:
8283819
SE (Ratio):
0.016
Effect Allele:
C
Z-score (Ratio):
9.945
Reference Allele:
A
-log10(P):
-51.987
MAF:
0.461
Beta (Num):
0.042
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 synthesis3[1], 4[2]

Denominator Metabolite Explanation:

Sphingolipid synthesis3[1], 5[2]

Ratio Explanation:

The ratio reflects the balance between different branches of sphingolipid metabolism, where CERS4-dependent ceramide production influences the pools of both sphingomyelin and glycosylceramides.4[1], 5[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Altered CERS4 activity likely dysregulates sphingolipid metabolism, contributing to inflammation and cellular stress implicated in gout and damaging peripheral nerves, leading to polyneuropathy.6[1], 7[2], 8[3], 9[4], 10[5], 11[6]

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