palmitoyl dihydrosphingomyelin (d18:0/16:0)* to sphingomyelin (d18:2/16:0, d18:1/16:1)*

Numerator Metabolite

Structure of palmitoyl dihydrosphingomyelin (d18:0/16:0)*
Metabolite Accession: GCST90200035
Name: palmitoyl dihydrosphingomyelin (d18:0/16:0)*
Hmdb Id: HMDB0010168
Super Pathway: NA
Sub Pathway: NA
Inchikey: QHZIGNLCLJPLCU

Denominator Metabolite

Metabolite Accession: GCST90199947
Name: sphingomyelin (d18:2/16:0, d18:1/16:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs7160525

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):
-0.266
Position:
64232220
SE (Ratio):
0.020
Effect Allele:
A
Z-score (Ratio):
-13.015
Reference Allele:
G
-log10(P):
-87.489
MAF:
0.164
Beta (Num):
-0.185
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.080
SE (Den):
0.019
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid biosynthesis/metabolism.4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Sphingolipid biosynthesis/metabolism.4[1], 7[2], 6[3]

Ratio Explanation:

An elevated ratio suggests a shift in sphingolipid metabolism, potentially indicating altered SGPP1 activity, favoring dihydrosphingomyelin accumulation over desaturated sphingomyelin species.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Reduced SGPP1 activity may elevate its substrate, sphingosine-1-phosphate, and alter ceramide species, contributing to dyslipidemia, and impacting glucose homeostasis (HbA1c) and triglyceride levels.8[1], 9[2], 10[3], 11[4]

Phenotype Driver:

Gene-centric:SGPP1

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