palmitoyl sphingomyelin (d18:1/16:0) to sphingomyelin (d18:1/20:0, d16:1/22:0)*

Numerator Metabolite

Structure of palmitoyl sphingomyelin (d18:1/16:0)
Metabolite Accession: GCST90199876
Name: palmitoyl sphingomyelin (d18:1/16:0)
Hmdb Id: HMDB0010169
Super Pathway: NA
Sub Pathway: NA
Inchikey: RWKUXQNLWDTSLO

Denominator Metabolite

Structure of sphingomyelin (d18:1/20:0, d16:1/22:0)*
Metabolite Accession: GCST90200001
Name: sphingomyelin (d18:1/20:0, d16:1/22:0)*
Hmdb Id: HMDB0012102
Super Pathway: NA
Sub Pathway: NA
Inchikey: AADLTHQNYQJHQV

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):
0.237
Position:
8283819
SE (Ratio):
0.016
Effect Allele:
C
Z-score (Ratio):
14.642
Reference Allele:
A
-log10(P):
-110.112
MAF:
0.462
Beta (Num):
0.036
Novel Locus:
No
SE (Num):
0.016
Beta (Den):
-0.201
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.4[1], 5[2]

Ratio Explanation:

The ratio reflects CERS4 activity, which synthesizes C18-C22 ceramide precursors for the denominator, potentially influencing the relative abundance of palmitoyl (C16) sphingomyelin.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

CERS4's eQTL affects its expression, altering the balance of sphingomyelin species. Dysregulated sphingolipid metabolism is linked to both polyneuropathy and gout, suggesting that altered membrane composition or signaling contributes to these phenotypes.6[1], 7[2], 8[3], 9[4]

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