n-palmitoyl-sphinganine (d18:0/16:0) to n-palmitoyl-heptadecasphingosine (d17:1/16:0)*

Numerator 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

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: rs7157785

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):
-0.368
Position:
64235556
SE (Ratio):
0.024
Effect Allele:
T
Z-score (Ratio):
-15.078
Reference Allele:
G
-log10(P):
-116.613
MAF:
0.166
Beta (Num):
-0.110
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.258
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 biosynthesis, Sphingolipid metabolism.3[1], 4[2], 5[3]

Denominator Metabolite Explanation:

Sphingolipid metabolism.3[1], 6[2]

Ratio Explanation:

This ratio compares a dihydroceramide to an odd-chain ceramide, potentially reflecting shifts in sphingoid base utilization for ceramide synthesis influenced by SGPP1 activity.1[1], 7[2], 6[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered SGPP1 function disrupts sphingolipid homeostasis, impacting ceramide levels.1[1], 8[2] This dysregulation is associated with disorders of lipoprotein metabolism, increased triglycerides, and impaired glucose control (HbA1c), which are recognized consequences of perturbed sphingolipid metabolism.9[3], 10[4], 11[5], 3[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