sphingomyelin (d18:1/20:1, d18:2/20:0)* to sphingomyelin (d18:2/24:2)*

Numerator Metabolite

Metabolite Accession: GCST90199996
Name: sphingomyelin (d18:1/20:1, d18:2/20:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of sphingomyelin (d18:2/24:2)*
Metabolite Accession: GCST90200124
Name: sphingomyelin (d18:2/24:2)*
Hmdb Id: HMDB0240644
Super Pathway: NA
Sub Pathway: NA
Inchikey: LAWJSGKLPKMOGG

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):
-0.269
Position:
8283819
SE (Ratio):
0.014
Effect Allele:
C
Z-score (Ratio):
-18.808
Reference Allele:
A
-log10(P):
-180.025
MAF:
0.461
Beta (Num):
-0.218
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
0.051
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 biosynthesis

Denominator Metabolite Explanation:

Sphingolipid biosynthesis

Ratio Explanation:

The ratio reflects the relative activity of ceramide synthases. Elevated CERS4 activity may favor the formation of ceramides with C20 fatty acids, precursors to the numerator.1[1], 3[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Altered CERS4 expression, influenced by genetic factors, likely changes the balance of specific sphingomyelin species.1[1], 3[2] This dysregulation of sphingolipid metabolism is associated with polyneuropathies and may influence uric acid levels, potentially contributing to gout.4[3], 5[4], 6[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