palmitoyl dihydrosphingomyelin (d18:0/16:0)* to glycosyl ceramide (d18:1/23:1, d17:1/24:1)*

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: GCST90200119
Name: glycosyl ceramide (d18:1/23:1, d17:1/24:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Associated Genomic Regions

Region: rs12878001

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):
-0.343
Position:
64239629
SE (Ratio):
0.029
Effect Allele:
G
Z-score (Ratio):
-11.907
Reference Allele:
T
-log10(P):
-73.602
MAF:
0.165
Beta (Num):
-0.188
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.154
SE (Den):
0.025
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.2[1], 4[2]

Denominator Metabolite Explanation:

Sphingolipid synthesis.5[1], 6[2]

Ratio Explanation:

An elevated ratio may suggest increased shunting of sphingosine towards dihydrosphingomyelin synthesis or reduced breakdown, potentially influenced by SGPP1's role in recycling sphingosine.

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

The SGPP1 gene's role in sphingolipid metabolism is the most direct link to disorders of lipoprotein metabolism.7[1], 2[2] Altered SGPP1 function could disrupt sphingolipid balance, impacting lipoprotein assembly and composition, which in turn influences triglyceride levels, platelet function, and glucose metabolism.8[3], 9[4], 10[5]

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