sphingomyelin (d18:2/14:0, d18:1/14:1)* to sphingomyelin (d18:2/21:0, d16:2/23:0)*

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: GCST90200129
Name: sphingomyelin (d18:2/21:0, d16:2/23:0)*
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):
0.103
Position:
8283819
SE (Ratio):
0.011
Effect Allele:
C
Z-score (Ratio):
9.422
Reference Allele:
A
-log10(P):
-46.863
MAF:
0.461
Beta (Num):
0.034
Novel Locus:
Yes ✔️
SE (Num):
0.013
Beta (Den):
-0.068
SE (Den):
0.013
No CNV overlap
rQTL cluster:
11
Reaction Distance:
NA
Closest Genes:
CERS4 FBN3 CD320 NDUFA7 NDUFA7

LLM Analysis

Numerator Metabolite Explanation:

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

Denominator Metabolite Explanation:

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

Ratio Explanation:

The ratio reflects CERS4's substrate preference for shorter (C14) versus longer chain fatty acids (C21, C23) in ceramide synthesis, the precursors of these sphingomyelins.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered CERS4 activity likely shifts the sphingolipid profile. This dysregulation of sphingolipid metabolism is associated with gout, polyneuropathies, and elevated uric acid, potentially through inflammatory pathways influenced by specific ceramide and sphingomyelin species.4[1], 5[2], 6[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