sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0)* to n-palmitoyl-heptadecasphingosine (d17:1/16:0)*

Numerator Metabolite

Structure of sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0)*
Metabolite Accession: GCST90200134
Name: sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: JONXXLXMISNQNG

Denominator Metabolite

Metabolite Accession: GCST90200115
Name: n-palmitoyl-heptadecasphingosine (d17:1/16:0)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs12897637

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
14
Beta (Ratio):
-0.314
Position:
64239351
SE (Ratio):
0.022
Effect Allele:
C
Z-score (Ratio):
-13.989
Reference Allele:
T
-log10(P):
-100.722
MAF:
0.165
Beta (Num):
-0.058
Novel Locus:
No
SE (Num):
0.021
Beta (Den):
0.256
SE (Den):
0.021
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

LLM Analysis

Numerator Metabolite Explanation:

Sphingomyelin metabolism, Sphingolipid biosynthesis.5[1], 6[2], 7[3]

Denominator Metabolite Explanation:

Sphingolipid/Ceramide metabolism.8[1], 9[2], 10[3]

Ratio Explanation:

The ratio of sphingomyelin to ceramide reflects the balance between sphingomyelin synthesis and degradation, a key regulatory point in lipid signaling and metabolism.11[1], 12[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced SGPP1 activity could decrease ceramide synthesis, altering the sphingomyelin-to-ceramide ratio, which is associated with dyslipidemia, and altered glucose homeostasis (HbA1c, Triglycerides).8[1], 1[2], 13[3], 14[4]

Phenotype Driver:

Metabolite-centric[both]

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