palmitoyl dihydrosphingomyelin (d18:0/16:0)* to sphingomyelin (d18:2/23:1)*

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

Structure of sphingomyelin (d18:2/23:1)*
Metabolite Accession: GCST90200126
Name: sphingomyelin (d18:2/23:1)*
Hmdb Id: HMDB0240668
Super Pathway: NA
Sub Pathway: NA
Inchikey: PUTLJICFLAOKRD

Associated Genomic Regions

Region: rs7160525

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):
-0.347
Position:
64232220
SE (Ratio):
0.022
Effect Allele:
A
Z-score (Ratio):
-15.920
Reference Allele:
G
-log10(P):
-129.724
MAF:
0.164
Beta (Num):
-0.185
Novel Locus:
No
SE (Num):
0.020
Beta (Den):
0.161
SE (Den):
0.018
No CNV overlap
rQTL cluster:
47
Reaction Distance:
NA
Closest Genes:
SGPP1 SYNE2 WDR89 PPP2R5E ESR2

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid de novo biosynthesis3[1], 4[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism5[1], 6[2]

Ratio Explanation:

This ratio reflects the balance between saturated dihydro-sphingolipids and unsaturated sphingolipids, indicating activity of desaturase enzymes within the sphingolipid synthesis pathway.3[1], 7[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered SGPP1 function likely modifies the balance of sphingolipid species, including dihydrosphingomyelins. Since sphingolipids are crucial for lipoprotein metabolism and glucose homeostasis, this alteration can contribute to dyslipidemia and elevated HbA1c and triglyceride levels.8[1], 9[2]

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