palmitoyl dihydrosphingomyelin (d18:0/16:0)* to sphingomyelin (d18:1/19:0, d19:1/18:0)*

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: GCST90200131
Name: sphingomyelin (d18:1/19:0, d19:1/18:0)*
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):
-0.437
Position:
64235556
SE (Ratio):
0.023
Effect Allele:
T
Z-score (Ratio):
-18.821
Reference Allele:
G
-log10(P):
-180.278
MAF:
0.166
Beta (Num):
-0.186
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.251
SE (Den):
0.019
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid de novo biosynthesis4[1], 5[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism4[1], 6[2]

Ratio Explanation:

The ratio of dihydrosphingomyelin to sphingomyelin can reflect the balance between de novo synthesis and maturation of sphingolipids, influenced by precursor availability.4[1], 7[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered SGPP1 function perturbs sphingolipid homeostasis, reflected by the ratio. This dysregulation impacts ceramide and sphingosine-1-phosphate levels, which are linked to lipoprotein metabolism disorders, dyslipidemia (Triglycerides), and impaired glucose homeostasis (HbA1c).1[1], 8[2], 9[3], 10[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