n-stearoyl-sphingosine (d18:1/18:0)* to palmitoyl dihydrosphingomyelin (d18:0/16:0)*

Numerator Metabolite

Structure of n-stearoyl-sphingosine (d18:1/18:0)*
Metabolite Accession: GCST90200341
Name: n-stearoyl-sphingosine (d18:1/18:0)*
Hmdb Id: HMDB0004950
Super Pathway: NA
Sub Pathway: NA
Inchikey: VODZWWMEJITOND

Denominator 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

Associated Genomic Regions

Region: rs12897637

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):
0.320
Position:
64239351
SE (Ratio):
0.028
Effect Allele:
C
Z-score (Ratio):
11.490
Reference Allele:
T
-log10(P):
-68.685
MAF:
0.166
Beta (Num):
0.132
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
-0.188
SE (Den):
0.020
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

LLM Analysis

Numerator Metabolite Explanation:

Ceramide synthesis, Sphingolipid metabolism4[1], 5[2], 6[3]

Denominator Metabolite Explanation:

Sphingomyelin synthesis, Sphingolipid metabolism7[1], 8[2], 9[3]

Ratio Explanation:

The ratio reflects the balance between ceramide formation and its utilization for sphingomyelin synthesis, potentially influenced by SGPP1-mediated sphingosine recycling.

Ratio Evidence:

metabolites related through biology

Gene Ratio Phenotype Relationship:

Decreased SGPP1 activity could alter the availability of sphingosine for ceramide synthesis, impacting the balance with sphingomyelin and contributing to dyslipidemia, a condition linked to altered triglyceride and HbA1c levels.1[1], 10[2], 11[3], 12[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