glycosyl-n-stearoyl-sphingosine (d18:1/18:0) to myristoyl dihydrosphingomyelin (d18:0/14:0)*

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

Structure of myristoyl dihydrosphingomyelin (d18:0/14:0)*
Metabolite Accession: GCST90200049
Name: myristoyl dihydrosphingomyelin (d18:0/14:0)*
Hmdb Id: HMDB0012085
Super Pathway: NA
Sub Pathway: NA
Inchikey: MJAFYELZQYPMQG

Associated Genomic Regions

Region: rs113171113

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Clumped rQTL variant

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SNP Summary

Chr:
10
Beta (Ratio):
0.139
Position:
52242876
SE (Ratio):
0.019
Effect Allele:
G
Z-score (Ratio):
7.468
Reference Allele:
A
-log10(P):
-30.138
MAF:
0.229
Beta (Num):
0.075
Novel Locus:
Yes ✔️
SE (Num):
0.018
Beta (Den):
-0.064
SE (Den):
0.018
No CNV overlap
rQTL cluster:
178
Reaction Distance:
NA
Closest Genes:
SGMS1 AC069547.2 AC069547.1 ASAH2 ASAH2B

Region: rs1871194

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Clumped rQTL variant

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SNP Summary

Chr:
19
Beta (Ratio):
-0.151
Position:
8283819
SE (Ratio):
0.016
Effect Allele:
C
Z-score (Ratio):
-9.268
Reference Allele:
A
-log10(P):
-45.409
MAF:
0.462
Beta (Num):
-0.115
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
0.036
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, glycosphingolipid biosynthesis.4[1], 5[2]

Denominator Metabolite Explanation:

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

Ratio Explanation:

This ratio may reflect CERS4 activity, where higher values suggest increased ceramide synthesis relative to its conversion to sphingomyelin, potentially impacting downstream signaling.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CERS4 genetic variants may alter sphingolipid metabolism, reflected in the glycosyl-n-stearoyl-sphingosine to myristoyl dihydrosphingomyelin ratio. Dysregulated sphingolipid metabolism is linked to inflammation and immune responses, providing a plausible, though not fully established, link to gout, autoimmune hypothyroidism, and polyneuropathies.2[1], 8[2], 9[3]

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