stearoyl sphingomyelin (d18:1/18:0) to n-palmitoyl-sphinganine (d18:0/16:0)

Numerator Metabolite

Structure of stearoyl sphingomyelin (d18:1/18:0)
Metabolite Accession: GCST90200335
Name: stearoyl sphingomyelin (d18:1/18:0)
Hmdb Id: HMDB0001348
Super Pathway: NA
Sub Pathway: NA
Inchikey: LKQLRGMMMAHREN

Denominator Metabolite

Structure of n-palmitoyl-sphinganine (d18:0/16:0)
Metabolite Accession: GCST90200064
Name: n-palmitoyl-sphinganine (d18:0/16:0)
Hmdb Id: HMDB11760
Super Pathway: NA
Sub Pathway: NA
Inchikey: GCGTXOVNNFGTPQ

Associated Genomic Regions

Region: rs17101394

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:
14
Beta (Ratio):
0.291
Position:
64232386
SE (Ratio):
0.027
Effect Allele:
A
Z-score (Ratio):
10.678
Reference Allele:
G
-log10(P):
-59.612
MAF:
0.165
Beta (Num):
0.179
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.112
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:

Sphingolipid metabolism.3[1]

Denominator Metabolite Explanation:

Sphingolipid metabolism.4[1]

Ratio Explanation:

This ratio reflects sphingolipid maturation, comparing a downstream sphingomyelin with an upstream dihydroceramide precursor, potentially influenced by SGPP1-mediated sphingosine availability for ceramide synthesis.1[1], 5[2], 6[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered SGPP1 activity likely modifies the sphingolipid profile, including this ratio.2[1], 6[2] This impacts ceramide-mediated insulin resistance and lipid accumulation, leading to elevated HbA1c and triglycerides, which are associated with metabolic diseases like type 2 diabetes.7[3], 8[4], 9[5], 5[6]

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