n-stearoyl-sphingosine (d18:1/18:0)* to n-palmitoyl-sphinganine (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 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: rs8012828

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):
0.243
Position:
64233980
SE (Ratio):
0.023
Effect Allele:
T
Z-score (Ratio):
10.423
Reference Allele:
C
-log10(P):
-56.902
MAF:
0.166
Beta (Num):
0.132
Novel Locus:
Yes ✔️
SE (Num):
0.020
Beta (Den):
-0.111
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:

Ceramide/Sphingolipid synthesis

Denominator Metabolite Explanation:

Dihydroceramide/Sphingolipid synthesis

Ratio Explanation:

This ratio may reflect ceramide desaturation activity, converting dihydroceramides (denominator) to ceramides (numerator), regulated by SGPP1 which influences substrate availability for ceramide synthesis.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered SGPP1 activity likely modifies sphingolipid pools, including the ceramide-to-dihydroceramide balance, impacting lipoprotein metabolism and cellular processes that influence HbA1c and triglyceride levels.4[1], 5[2], 6[3], 7[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