sphingomyelin (d18:0/18:0, d19:0/17:0)* to sphingomyelin (d18:1/19:0, d19:1/18:0)*

Numerator Metabolite

Structure of sphingomyelin (d18:0/18:0, d19:0/17:0)*
Metabolite Accession: GCST90200056
Name: sphingomyelin (d18:0/18:0, d19:0/17:0)*
Hmdb Id: HMDB0012087
Super Pathway: NA
Sub Pathway: NA
Inchikey: JCELSEVNSMXGKA

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

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
14
Beta (Ratio):
-0.327
Position:
64235556
SE (Ratio):
0.020
Effect Allele:
T
Z-score (Ratio):
-15.990
Reference Allele:
G
-log10(P):
-130.846
MAF:
0.167
Beta (Num):
-0.076
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 metabolism.2[1], 4[2], 5[3]

Denominator Metabolite Explanation:

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

Ratio Explanation:

This ratio reflects the balance in sphingomyelin species, potentially influenced by SGPP1's role in providing sphingoid bases for sphingolipid synthesis.2[1], 3[2]

Ratio Evidence:

metabolites not in a pathway but enzyme catalyzes one metabolite

Gene Ratio Phenotype Relationship:

Altered SGPP1 function may disrupt sphingolipid homeostasis, contributing to dyslipidemia. The resulting changes in specific sphingomyelin species are associated with disorders of lipoprotein metabolism, and altered triglyceride and HbA1c levels, linking SGPP1 to these metabolic phenotypes.7[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