palmitoyl dihydrosphingomyelin (d18:0/16:0)* to sphingomyelin (d18:1/17:0, d17:1/18:0, d19:1/16:0)

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: GCST90200047
Name: sphingomyelin (d18:1/17:0, d17:1/18:0, d19:1/16:0)
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):
-0.372
Position:
64235556
SE (Ratio):
0.021
Effect Allele:
T
Z-score (Ratio):
-17.388
Reference Allele:
G
-log10(P):
-154.260
MAF:
0.166
Beta (Num):
-0.186
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.186
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:

Sphingolipid de novo synthesis.4[1], 5[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.6[1], 7[2]

Ratio Explanation:

This ratio reflects ceramide desaturation. Dihydrosphingomyelin is synthesized from dihydroceramide, while sphingomyelin is synthesized from ceramide, the desaturated form of dihydroceramide.6[1], 5[2], 8[3]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered SGPP1 activity likely modulates the sphingolipid pool, affecting the balance between dihydro- and standard sphingomyelins. Perturbations in sphingolipid metabolism are strongly linked to insulin resistance and dyslipidemia, potentially increasing triglyceride and HbA1c levels and contributing to lipidaemia disorders.9[1], 10[2], 11[3], 12[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