sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)* to palmitoyl dihydrosphingomyelin (d18:0/16:0)*

Numerator Metabolite

Metabolite Accession: GCST90200033
Name: sphingomyelin (d18:2/23:0, d18:1/23:1, d17:1/24:1)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator 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

Associated Genomic Regions

Region: rs7160525

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
14
Beta (Ratio):
0.320
Position:
64232220
SE (Ratio):
0.020
Effect Allele:
A
Z-score (Ratio):
16.130
Reference Allele:
G
-log10(P):
-133.099
MAF:
0.164
Beta (Num):
0.134
Novel Locus:
No
SE (Num):
0.018
Beta (Den):
-0.185
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 metabolism.3[1]

Denominator Metabolite Explanation:

Sphingolipid de novo biosynthesis.4[1]

Ratio Explanation:

The ratio reflects sphingolipid maturation. SGPP1 activity influences precursor availability, thus modulating the balance between downstream sphingomyelins and upstream dihydro-sphingolipids.

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Altered SGPP1 activity likely modifies sphingolipid profiles. Dysregulation of sphingolipids is associated with disorders of lipoprotein metabolism, triglyceride levels, and insulin resistance, which can affect HbA1c levels.5[1], 6[2], 7[3]

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